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"count": 220833,
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{
"created": "2025-08-08T13:06:58.236288+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.321",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \nSources: Literature; to: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \r\nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:06:48.013316+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.; to: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:06:37.952812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.; to: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy, and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:06:20.157427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.; to: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays.",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:05:52.973675+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.45",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1\nPhenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:05:27.310163+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.321",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1\nPhenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: De Pace et al. 2025 [preprint] doi: https://doi.org/10.1101/2025.07.17.25331211\r\n11 individuals from seven unrelated families (includes 4 individuals from 3 families described in Bertoli-Avella PMID: 33875846), with severe neurodevelopmental disorder and harbour biallelic variants of BLOC1S1. \r\n\r\nThe disorder presents with early infantile onset and is characterised by deficient myelination, global developmental delay, intellectual disability, hypotonia, epilepsy (in some cases), and visual impairment (bilateral optic atrophy in most). The severity ranged from early death to a milder form with preserved ambulation and single-word communication. All individuals harbouring BLOC1S1 variants with available neuroimaging exhibit hypomyelinating leukodystrophy. \r\n\r\nFunctional analyses show that BLOC1S1 KO impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and iPSC-derived neurons. Missense variants displayed various combinations of defective expression, assembly, lysosome dispersal and/or autophagy. The frameshift variant showed the most severe deficiencies in tested assays. \nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:05:08.968388+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T13:04:11.341934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: BLOC1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.medrxiv.org/content/10.1101/2025.07.17.25331211v1; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2025-08-08T12:47:50.381425+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: THAP11_SCA51_CAG: Changed publications: 15368101, 24677642, 34165550, 38113319, 40459937, 39651830, 37148549",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-08-08T12:47:03.307892+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 40459937; 39651830",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-08-08T11:00:56.458076+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Amber List (moderate evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:56.451649+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:50.192607+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Amber List (moderate evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:50.178065+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.286",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:49.295170+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Amber List (moderate evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:49.272157+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.76",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:31.627603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Amber List (moderate evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:31.615903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2817",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:30.444023+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM17 was added\ngene: TMEM17 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7\nPhenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related\nReview for gene: TMEM17 was set to AMBER\nAdded comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). \r\n\r\nThey also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.\r\n\r\nNo functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. \nSources: Literature",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:23.198798+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.285",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM17 was added\ngene: TMEM17 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7\nPhenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related\nReview for gene: TMEM17 was set to AMBER\nAdded comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). \r\n\r\nThey also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.\r\n\r\nNo functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. \nSources: Literature",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:21.584380+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.75",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM17 was added\ngene: TMEM17 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7\nPhenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related\nReview for gene: TMEM17 was set to AMBER\nAdded comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). \r\n\r\nThey also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.\r\n\r\nNo functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. \nSources: Literature",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:18.081498+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.386",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TMEM17 as Amber List (moderate evidence)",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:18.067896+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.386",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tmem17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T11:00:10.114187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2816",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM17 was added\ngene: TMEM17 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7\nPhenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related\nReview for gene: TMEM17 was set to AMBER\nAdded comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). \r\n\r\nThey also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.\r\n\r\nNo functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. \nSources: Literature",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T10:58:35.601267+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.385",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TMEM17 was added\ngene: TMEM17 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7\nPhenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related\nReview for gene: TMEM17 was set to AMBER\nAdded comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). \r\n\r\nThey also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available.\r\n\r\nNo functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. \nSources: Literature",
"entity_name": "TMEM17",
"entity_type": "gene"
},
{
"created": "2025-08-08T08:27:15.415289+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.8",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: IKZF1 was added\ngene: IKZF1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF1 were set to PMID: 32654692\nPhenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation\nReview for gene: IKZF1 was set to GREEN\nAdded comment: ~30% of patients present with ALPS like autoimmunity +/- lymphoproliferation. \nSources: Literature",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:51.589816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHTF18 as ready",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:51.579885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chtf18 has been classified as Green List (High Evidence).",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:45.620504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHTF18 were changed from complex neurodevelopmental disorder with or without congenital anomalies (Cohesinopathies) MONDO:0100465 to Neurodevelopmental disorder MONDO#0700092, CHTF18-related",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:23.219004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHTF18 as Green List (high evidence)",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:23.206381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chtf18 has been classified as Green List (High Evidence).",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:51:08.595430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHTF18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO#0700092, CHTF18-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:50:26.192068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHTF18 as ready",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:50:26.174821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chtf18 has been classified as Green List (High Evidence).",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:50:20.294353+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHTF18 were changed from complex neurodevelopmental disorder with or without congenital anomalies (Cohesinopathies) MONDO:0100465 to Neurodevelopmental disorder MONDO#0700092, CHTF18-related",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:49:49.192265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHTF18 as Green List (high evidence)",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:49:49.177630+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chtf18 has been classified as Green List (High Evidence).",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:49:21.793713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHTF18: Changed phenotypes: Neurodevelopmental disorder MONDO#0700092, CHTF18-related",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:48:14.093894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHTF18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHTF18",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:45:55.998205+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:45:55.986594+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:45:54.057184+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from APDS to Immunodeficiency 36, MIM# 616005",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:45:44.499806+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R1 as Green List (high evidence)",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:45:44.486602+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:44:56.572875+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:44:56.562412+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:44:53.192567+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CD were changed from APDS to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:44:23.295669+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CD as Green List (high evidence)",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:44:23.283638+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:56.495228+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB1 as ready",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:56.487257+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Green List (High Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:52.385535+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM# 616576",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:35.364482+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFKB1 as Green List (high evidence)",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:35.352917+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb1 has been classified as Green List (High Evidence).",
"entity_name": "NFKB1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:18.177738+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFKB2 as ready",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:18.167862+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:43:15.673637+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:42:55.138240+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFKB2 as Green List (high evidence)",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:42:55.131344+10:00",
"panel_name": "Autoimmune Lymphoproliferative Syndrome",
"panel_id": 4389,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfkb2 has been classified as Green List (High Evidence).",
"entity_name": "NFKB2",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:42:14.086574+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM2B were set to 36322151",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:41:47.713168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 40420380; Phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:40:25.960525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM2B were set to 36322151",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:39:33.070377+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM2B as ready",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:39:33.059871+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2b has been classified as Green List (High Evidence).",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:39:29.170778+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM2B as Green List (high evidence)",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:39:29.159629+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm2b has been classified as Green List (High Evidence).",
"entity_name": "KDM2B",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:39.386609+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNW1 as ready",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:39.375299+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:33.805461+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNW1 as Green List (high evidence)",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:33.794932+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:10.881619+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNW1 as ready",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:10.870278+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:07.223542+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNW1 as Green List (high evidence)",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:38:07.216670+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:37:35.939523+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNW1 as ready",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:37:35.928984+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:37:27.316963+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNW1 as Green List (high evidence)",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:37:27.310656+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:55.221551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNW1 as ready",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:55.210498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:47.772187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNW1 as Green List (high evidence)",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:47.759656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:29.938121+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNW1 as ready",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:29.928246+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:25.257369+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNW1 as Green List (high evidence)",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:36:25.250515+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snw1 has been classified as Green List (High Evidence).",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:35:32.968505+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.546",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNW1 was added\ngene: SNW1 was added to Callosome. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:34:23.757600+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDCD6IP were set to 32286682",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:34:10.995413+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Green List (high evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:34:10.983759+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Green List (High Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:33:59.928134+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD6IP: Added comment: Additional individual with homozygous truncating variant, mild ID, microcephaly and mild thrombocytopenia.\r\np.Arg322* - present in gnomAD (NFE AF - 0.0006%).; Changed rating: GREEN; Changed publications: https://doi.org/10.1111/cge.70025",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:33:37.430461+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.319",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNW1 was added\ngene: SNW1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:32:44.750601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.209",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNW1 was added\ngene: SNW1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:31:51.263234+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.171",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNW1 was added\ngene: SNW1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:30:59.093142+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Green List (high evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:30:59.082931+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Green List (High Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:30:28.630051+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PDCD6IP: Added comment: Additional individual with homozygous truncating variant, mild ID, microcephaly and mild thrombocytopenia. \r\n p.Arg322* - present in gnomAD (NFE AF - 0.0006%).; Changed rating: GREEN; Changed publications: https://doi.org/10.1111/cge.70025",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:30:27.534833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2811",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SNW1 was added\ngene: SNW1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature",
"entity_name": "SNW1",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:24:00.254411+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD6IP as Green List (high evidence)",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2025-08-07T16:24:00.243933+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd6ip has been classified as Green List (High Evidence).",
"entity_name": "PDCD6IP",
"entity_type": "gene"
}
]
}