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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=199",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=197",
"results": [
{
"created": "2025-07-17T01:50:26.282078+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:50:14.280240+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP6 was added\ngene: LRP6 was added to Vitreoretinopathy. Sources: Literature\nMode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP6 were set to 34896607\nPhenotypes for gene: LRP6 were set to Exudative vitreoretinopathy 8, MIM#\t621268\nReview for gene: LRP6 was set to AMBER\nAdded comment: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model. \nSources: Literature",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:45:07.008423+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASTKD5 as ready",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:45:06.998131+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:45:02.679842+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723 to Leigh syndrome MONDO:0009723, FASTKD5-related",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:44:16.695540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASTKD5 as ready",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:44:16.685466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:44:08.728764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723 to Leigh syndrome MONDO:0009723, FASTKD5-related",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:43:39.851308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FASTKD5 as ready",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:43:39.840972+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:43:34.594518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723 to Leigh syndrome MONDO:0009723, FASTKD5-related",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:41:42.855756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425 to Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653; Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425; congenital myopathy MONDO:0019952, DST-related",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:41:13.037210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DST were set to 22522446; 30371979; 28468842",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:40:32.942671+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DST as ready",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:40:32.936170+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:40:29.142903+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952 to congenital myopathy MONDO:0019952, DST-related",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:39:56.235624+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DST as ready",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:39:56.228745+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-17T01:39:52.691010+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DST were changed from congenital myopathy MONDO:0019952 to congenital myopathy MONDO:0019952, DST-related",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:56:01.526275+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.95",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DST as Green List (high evidence)",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:56:01.518885+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.95",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:55:52.930167+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.421",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DST as Green List (high evidence)",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:55:52.917483+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.421",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dst has been classified as Green List (High Evidence).",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:55:17.982739+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.94",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DST was added\ngene: DST was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DST were set to PMID: 40497796\nPhenotypes for gene: DST were set to congenital myopathy MONDO:0019952\nReview for gene: DST was set to GREEN\nAdded comment: Dystonin (DST) encodes three major isoforms, DST-a, DST-b, and DST-e. Biallelic pathogenic variants in DST are associated with Hereditary Sensory and Autonomic Neuropathy type VI (caused by a loss of DST-a) and Epidermolysis bullosa simplex 3 (caused by a loss of DST-e). \r\n\r\nPMID 40497796 reports 19 affected individuals from 14 unrelated families with severe congenital myopathy characterized by arthrogryposis, hypotonia, myopathy, and motor delay. 3/19 resulted in TOP, 9/14 needed CPAP ventilation, 7/14 had dilated cardiomyopathy, 7/16 died under 3 years of life. 3 patients are now over 25 years with normal cognition and ambulation. Muscle biopsies in 4 patients (aged 1 month to 3 years) showed mild/non-specific myopathic changes, mild/focal myofibrillar disruption, and non-specific undulating nuclear membranes.\r\n\r\nWES/WGS identified 9 different LOF variants in biallelic state located in exons 40-41 and specific to isoform DST-b. 18/19 individuals had homozygous variants, 1/19 individuals had compound heterozygous variants, 8/9 variants were in exon 40, 1/9 variants were in exon 41.\r\n\r\nRNA analyses demonstrated that transcripts encoding DST-b are predominantly expressed in skeletal muscle, heart tissue, and cultured fibroblasts, but not in brain matching the phenotypic spectrum. Patient-derived fibroblasts exhibited reduced DST mRNA expression. Proteomic analysis confirmed a reduction of DST protein levels due to an absence of the DST-b isoform. \r\nTherefore, biallelic variants exclusively affecting DST-b cause an autosomal recessive congenital myopathy. \r\n\r\nAdditionally, 2 homozygous LOF variants (outside of exons 40-41) affecting both DST-a and DST-b isoforms were found in 4 patients from 2 unrelated families with severe arthrogryposis and death in utero or shortly after birth. Variants that also impact DST-a besides DST-b result in a more severe, lethal congenital contracture syndrome. \nSources: Literature",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:55:14.710784+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.420",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DST was added\ngene: DST was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DST were set to PMID: 40497796\nPhenotypes for gene: DST were set to congenital myopathy MONDO:0019952\nReview for gene: DST was set to GREEN\nAdded comment: Dystonin (DST) encodes three major isoforms, DST-a, DST-b, and DST-e. Biallelic pathogenic variants in DST are associated with Hereditary Sensory and Autonomic Neuropathy type VI (caused by a loss of DST-a) and Epidermolysis bullosa simplex 3 (caused by a loss of DST-e). \r\n\r\nPMID 40497796 reports 19 affected individuals from 14 unrelated families with severe congenital myopathy characterized by arthrogryposis, hypotonia, myopathy, and motor delay. 3/19 resulted in TOP, 9/14 needed CPAP ventilation, 7/14 had dilated cardiomyopathy, 7/16 died under 3 years of life. 3 patients are now over 25 years with normal cognition and ambulation. Muscle biopsies in 4 patients (aged 1 month to 3 years) showed mild/non-specific myopathic changes, mild/focal myofibrillar disruption, and non-specific undulating nuclear membranes.\r\n\r\nWES/WGS identified 9 different LOF variants in biallelic state located in exons 40-41 and specific to isoform DST-b. 18/19 individuals had homozygous variants, 1/19 individuals had compound heterozygous variants, 8/9 variants were in exon 40, 1/9 variants were in exon 41.\r\n\r\nRNA analyses demonstrated that transcripts encoding DST-b are predominantly expressed in skeletal muscle, heart tissue, and cultured fibroblasts, but not in brain matching the phenotypic spectrum. Patient-derived fibroblasts exhibited reduced DST mRNA expression. Proteomic analysis confirmed a reduction of DST protein levels due to an absence of the DST-b isoform. \r\nTherefore, biallelic variants exclusively affecting DST-b cause an autosomal recessive congenital myopathy. \r\n\r\nAdditionally, 2 homozygous LOF variants (outside of exons 40-41) affecting both DST-a and DST-b isoforms were found in 4 patients from 2 unrelated families with severe arthrogryposis and death in utero or shortly after birth. Variants that also impact DST-a besides DST-b result in a more severe, lethal congenital contracture syndrome. \nSources: Literature",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:55:05.888116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40497796; Phenotypes: congenital myopathy MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DST",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:55.533577+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FASTKD5 as Green List (high evidence)",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:55.525548+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.196",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:55.519746+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.985",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FASTKD5 as Green List (high evidence)",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:55.511705+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.985",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:50.836881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FASTKD5 as Green List (high evidence)",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:50.828003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2719",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fastkd5 has been classified as Green List (High Evidence).",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:28.411430+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.984",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FASTKD5 was added\ngene: FASTKD5 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD5 were set to PMID: 40499538\nPhenotypes for gene: FASTKD5 were set to Leigh syndrome MONDO:0009723\nReview for gene: FASTKD5 was set to GREEN\nAdded comment: 3 unrelated individuals with Leigh syndrome (1 x severe/early-onset/fatal, 1 x milder/childhood-onset, 1 x adult-onset). WES identified compound heterozygous variants in FASTKD5 gene (3 x missense variants, 2 x frameshift variants leading to a premature stop codon). The FASTKD5 gene codes for a mitochondrial protein essential for processing mRNAs at non-canonical cleavage sites in the primary mitochondrial transcript. \r\n\r\nAnalysis of fibroblasts from two subjects showed reduced steady-state levels of FASTKD5 protein by immunoblot, reduced translation of the cytochrome c oxidase subunit 1, impaired assembly of complex IV, and a consequent decrease in cytochrome c oxidase enzymatic activity. The extent of these deficiencies appeared to correlate with the severity of the clinical phenotype. Expression of a wild-type FASTKD5 cDNA, but not cDNAs expressing the missense variants, rescued all the molecular defects in the subjects' fibroblasts, demonstrating that the alleles are pathogenic. 2/3 missense variants resulted in near complete loss of function, while one was hypomorphic, resulting from impaired protein stability. \nSources: Literature",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:21.994068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FASTKD5 was added\ngene: FASTKD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD5 were set to PMID: 40499538\nPhenotypes for gene: FASTKD5 were set to Leigh syndrome MONDO:0009723\nReview for gene: FASTKD5 was set to GREEN\nAdded comment: 3 unrelated individuals with Leigh syndrome (1 x severe/early-onset/fatal, 1 x milder/childhood-onset, 1 x adult-onset). WES identified compound heterozygous variants in FASTKD5 gene (3 x missense variants, 2 x frameshift variants leading to a premature stop codon). The FASTKD5 gene codes for a mitochondrial protein essential for processing mRNAs at non-canonical cleavage sites in the primary mitochondrial transcript. \r\n\r\nAnalysis of fibroblasts from two subjects showed reduced steady-state levels of FASTKD5 protein by immunoblot, reduced translation of the cytochrome c oxidase subunit 1, impaired assembly of complex IV, and a consequent decrease in cytochrome c oxidase enzymatic activity. The extent of these deficiencies appeared to correlate with the severity of the clinical phenotype. Expression of a wild-type FASTKD5 cDNA, but not cDNAs expressing the missense variants, rescued all the molecular defects in the subjects' fibroblasts, demonstrating that the alleles are pathogenic. 2/3 missense variants resulted in near complete loss of function, while one was hypomorphic, resulting from impaired protein stability. \nSources: Literature",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:24:01.085880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2718",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FASTKD5 was added\ngene: FASTKD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASTKD5 were set to PMID: 40499538\nPhenotypes for gene: FASTKD5 were set to Leigh syndrome MONDO:0009723\nReview for gene: FASTKD5 was set to GREEN\nAdded comment: 3 unrelated individuals with Leigh syndrome (1 x severe/early-onset/fatal, 1 x milder/childhood-onset, 1 x adult-onset). WES identified compound heterozygous variants in FASTKD5 gene (3 x missense variants, 2 x frameshift variants leading to a premature stop codon). The FASTKD5 gene codes for a mitochondrial protein essential for processing mRNAs at non-canonical cleavage sites in the primary mitochondrial transcript. \r\n\r\nAnalysis of fibroblasts from two subjects showed reduced steady-state levels of FASTKD5 protein by immunoblot, reduced translation of the cytochrome c oxidase subunit 1, impaired assembly of complex IV, and a consequent decrease in cytochrome c oxidase enzymatic activity. The extent of these deficiencies appeared to correlate with the severity of the clinical phenotype. Expression of a wild-type FASTKD5 cDNA, but not cDNAs expressing the missense variants, rescued all the molecular defects in the subjects' fibroblasts, demonstrating that the alleles are pathogenic. 2/3 missense variants resulted in near complete loss of function, while one was hypomorphic, resulting from impaired protein stability. \nSources: Literature",
"entity_name": "FASTKD5",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:23:06.779876+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LRPPRC as Green List (high evidence)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2025-07-16T07:23:06.769383+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.168",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lrpprc has been classified as Green List (High Evidence).",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2025-07-15T13:05:16.783254+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: KCNU1: Changed publications: 34980136, 35551387, 20138882, 21427226, 25271166, 35551387",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-15T13:05:06.761618+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: KCNU1 was added\ngene: KCNU1 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KCNU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNU1 were set to 34980136, 35551387; 20138882; 21427226; 25271166; 35551387\nPhenotypes for gene: KCNU1 were set to Spermatogenic failure 79, #MIM 620196\nReview for gene: KCNU1 was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 34980136, 35551387- 3 unrelated male with spermatogenic failure with different homozygous variants, supported by functional evidence; PubMed: 20138882, 21427226, 25271166- Slo3 -/- KO mice were infertile, 35551387- mice with homozygous H720R variant, corresponding to the human H715R variant recapitulated human phenotype. \nSources: Literature",
"entity_name": "KCNU1",
"entity_type": "gene"
},
{
"created": "2025-07-15T13:02:17.895415+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: KIAA1683 was added\ngene: KIAA1683 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: KIAA1683 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1683 were set to 36321563; 39872118; 37140151; 37184908; 40437858\nPhenotypes for gene: KIAA1683 were set to Spermatogenic failure 78, #MIM 620170\nReview for gene: KIAA1683 was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 36321563, 39872118, 37140151, 37184908 (>3 unrelated Chinese men with infertility due to spermatogenic failure with hom/com het variants)\r\n\r\nNew paper: \r\ni) PMID: 40437858 (2025)- novel hom p.Trp796Ter in infertile man with fertilization failure and history of two miscarriages with his partner. According to the prediction of protein conformations, it was found that the protein conformations were truncated in the mutated IQCN gene, which probably affected the function of the patient's sperm. \nSources: Literature",
"entity_name": "KIAA1683",
"entity_type": "gene"
},
{
"created": "2025-07-15T12:59:48.023825+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ACTL9 was added\ngene: ACTL9 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACTL9 were set to 33626338; 38963606\nPhenotypes for gene: ACTL9 were set to Spermatogenic failure 53, MIM# 619258\nReview for gene: ACTL9 was set to GREEN\nAdded comment: Literature in OMIM entry- PMID: 33626338 (3 unrelated Chinese men with infertility due to spermatogenic failure with 2 hom missense variants, supported by functional evidence)\r\n\r\nOther papers: \r\ni) PMID: 38963606 (2024)- novel homozygous p.Gly342Cys and p.Val380Leu sitting in the actin domain in two independent Chinese families. Spermatozoa with ACTL9 mutations showed decreased CASA parameters and a higher proportion of spermatozoa with abnormal morphology, exhibiting coiled flagella and a thickened midpiece. The spermatozoa were characterized by chaotic or irregular '9+2' structures and irregular mitochondrial sheath arrangements in the flagellum. There was no significant difference in ACTL9 expression between the HeLa cells transfected with the WT and mutant ACTL9 plasmids. Actl9 knock-in mice also showed abnormal CASA parameters and irregular '9+2' structures in flagella. \nSources: Literature",
"entity_name": "ACTL9",
"entity_type": "gene"
},
{
"created": "2025-07-15T12:57:18.314456+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men\r\n\r\nOther papers: \r\ni)PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic. The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting, confirming the pathogenicity of the variants. \r\n\r\nii)PMID: 36574082 (2023)- two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.\r\n\r\niii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice. \nSources: Literature; to: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men\r\n\r\nOther papers: \r\ni) PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic.The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting.\r\n\r\nii)PMID: 36574082 (2023)- Two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.\r\n\r\niii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice. \r\nSources: Literature",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-15T12:55:58.333911+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.151",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: ACTL7A was added\ngene: ACTL7A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: ACTL7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACTL7A were set to 32923619; 34727571; 36593593; 37004249; 37991128; 36574082; 35921706\nPhenotypes for gene: ACTL7A were set to Spermatogenic failure 86, #MIM 620499\nReview for gene: ACTL7A was set to GREEN\nAdded comment: Literature in OMIM entry- PubMed: 32923619, 34727571, 36593593, 37004249- different biallelic variants reported in >3 unrelated infertile men\r\n\r\nOther papers: \r\ni)PMID: 37991128 (2025)- two infertile males with com het p.R373H/p.G402S and hom p.R373C. All located within actin domain and predicted to be pathogenic. The protein expression of actin-like protein 7A was absent in affected spermatozoa by using immunofluorescence staining and western blotting, confirming the pathogenicity of the variants. \r\n\r\nii)PMID: 36574082 (2023)- two infertile brothers with hom p.D75A with teratozoospermia and fertilization failure. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. The variant also caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients.\r\n\r\niii) PMID: 35921706 (2022)- Actl7a gene knockout (KO) mice led to malformed formation of sperm acrosomes, male infertility, fertilization failure during in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and reduced sperm-zona pellucida (ZP) binding ability. Localization of the zona pellucida binding protein (ZPBP) was altered in the sperm of Actl7a homozygous KO male mice. \nSources: Literature",
"entity_name": "ACTL7A",
"entity_type": "gene"
},
{
"created": "2025-07-15T00:01:58.064743+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA4 as ready",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-07-15T00:01:58.058092+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-07-15T00:01:49.320470+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA4 as Green List (high evidence)",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-07-15T00:01:49.308922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa4 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-07-14T16:39:04.558414+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.193",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "gene: NDUFA4 was added\ngene: NDUFA4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFA4 were set to PMID: 39967265\nPhenotypes for gene: NDUFA4 were set to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065\nReview for gene: NDUFA4 was set to GREEN\nAdded comment: HGNC symbol now COXFA4\r\n\r\nAround 10 patients reported in literature thus far with most having developmental delay. Association with hypertrophic cardiomyopathy reported in 3 siblings from a family in PMID: 39967265 \nSources: Literature",
"entity_name": "NDUFA4",
"entity_type": "gene"
},
{
"created": "2025-07-14T10:42:47.659154+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MPO as ready",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2025-07-14T10:42:47.652056+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpo has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2025-07-14T10:21:14.445549+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MPO as Amber List (moderate evidence)",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2025-07-14T10:21:14.435470+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpo has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2025-07-14T10:20:48.465502+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPO was added\ngene: MPO was added to Phagocyte Defects. Sources: Other\nMode of inheritance for gene: MPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPO were set to 7904599; 39087142; 29262241\nPhenotypes for gene: MPO were set to myeloperoxidase deficiency MONDO:0009694\nReview for gene: MPO was set to AMBER\nAdded comment: Most common inherited phagocyte defect leading to impaired microbial killing. The majority of cases are clinically asymptomatic except if diabetic. \nSources: Other",
"entity_name": "MPO",
"entity_type": "gene"
},
{
"created": "2025-07-13T15:26:45.521265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2717",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS1 were changed from Increased ocular pressure; Glaucoma to Increased ocular pressure; Glaucoma MONDO:0005041",
"entity_name": "GLIS1",
"entity_type": "gene"
},
{
"created": "2025-07-13T15:23:14.364252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2716",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GINS2 were changed from Meier-Gorlin syndrome with craniosynostosis to Meier-Gorlin syndrome with craniosynostosis MONDO:0016817",
"entity_name": "GINS2",
"entity_type": "gene"
},
{
"created": "2025-07-13T15:20:34.120666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2715",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GATC were changed from Mitochondrial cardiomyopathy to Mitochondrial cardiomyopathy; inborn mitochondrial metabolism disorder MONDO:0004069",
"entity_name": "GATC",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:41:32.482045+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FEM1B were changed from Syndromic disease MONDO:0002254, FEM1B-related to Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:41:04.024397+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FEM1B: Changed phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:38:04.633673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FEM1B were changed from Syndromic disease MONDO:0002254, FEM1B-related to Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:37:37.546296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FEM1B: Changed phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:36:33.447768+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOT1L were changed from Neurodevelopmental disorder, MONDO:0700092, DOT1L-related to Nil-Deshwan neurodevelopmental syndrome, MIM# 621265",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:36:05.143741+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOT1L: Changed phenotypes: Nil-Deshwan neurodevelopmental syndrome, MIM# 621265",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:35:40.763805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOT1L were changed from Neurodevelopmental disorder, MONDO:0700092, DOT1L-related to Nil-Deshwan neurodevelopmental syndrome, MIM# 621265",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2025-07-13T01:35:08.928026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOT1L: Changed phenotypes: Nil-Deshwan neurodevelopmental syndrome, MIM# 621265",
"entity_name": "DOT1L",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:28:11.292739+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL17 as ready",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:28:11.285984+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:27:57.580188+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL17 as Green List (high evidence)",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:27:57.570223+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:27:46.953846+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL17 was added\ngene: RPL17 was added to Red cell disorders. Sources: Literature\nMode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL17 were set to 39088281\nPhenotypes for gene: RPL17 were set to Diamond-Blackfan anaemia 22, MIM# 621262\nReview for gene: RPL17 was set to GREEN\nAdded comment: PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17. \nSources: Literature",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:26:39.067242+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL17 as ready",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:26:39.060083+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:26:32.420243+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL17 as Green List (high evidence)",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:26:32.409586+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:26:01.571719+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL17 was added\ngene: RPL17 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL17 were set to 39088281\nPhenotypes for gene: RPL17 were set to Diamond-Blackfan anaemia 22, MIM# 621262\nReview for gene: RPL17 was set to GREEN\nAdded comment: PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17. \nSources: Literature",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:24:02.394639+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL17 as ready",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:24:02.387301+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:23:11.212392+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL17 as Green List (high evidence)",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:23:11.206328+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:22:49.437797+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL17 was added\ngene: RPL17 was added to Diamond Blackfan anaemia. Sources: Literature\nMode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL17 were set to 39088281\nPhenotypes for gene: RPL17 were set to Diamond-Blackfan anaemia 22, MIM# 621262\nReview for gene: RPL17 was set to GREEN\nAdded comment: PMID:39088281 reported two different pedigrees identified with monoallelic variants in RPL17 gene (3C>G & c.452delC/ p.(Thr151Argfs*25). Affected individuals from both pedigrees exhibited clinical features and erythroid proliferation defects consistent with Diamond-Blackfan anaemia. Individuals from first family also presented with skeletal abnormalities, which were not reported in family 2. Modelling of rpl17 deficiency in zebrafish recapitulated the major clinical features of the disorder including anaemia and micrognathia. There is also functional evidence available from lymphoblastoid cell lines (LCLs) derived from patients, which displayed a ribosomal RNA maturation defect reflecting haploinsufficiency of RPL17. \nSources: Literature",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:21:50.850609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL17 as ready",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:21:50.842426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:21:06.456965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL17 were changed from Diamond-Blackfan anemia, MONDO:0015253 to Diamond-Blackfan anaemia 22, MIM# 621262",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:20:42.245748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL17 as Green List (high evidence)",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:20:42.234811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl17 has been classified as Green List (High Evidence).",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T21:19:54.132086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 22, MIM# 621262; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL17",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:57:57.360887+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.983",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GATB were changed from Mitochondrial cardiomyopathy to inborn mitochondrial metabolism disorder MONDO:0004069",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:56:57.218593+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.982",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GATB were set to 30283131; 38703036",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:56:26.666997+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GATB were set to 30283131",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:56:03.347200+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATB as Amber List (moderate evidence)",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:56:03.340253+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatb has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:55:34.757377+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.980",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GATB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30283131, 38703036; Phenotypes: inborn mitochondrial metabolism disorder MONDO:0004069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:53:58.160037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2710",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GATB were changed from Mitochondrial cardiomyopathy to inborn mitochondrial metabolism disorder MONDO:0004069",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:53:48.295113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2709",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GATB were set to 30283131",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:53:36.091829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATB as Amber List (moderate evidence)",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:53:36.084569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2708",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gatb has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:53:17.310225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2707",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GATB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30283131, 38703036; Phenotypes: inborn mitochondrial metabolism disorder MONDO:0004069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GATB",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:30:39.594062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2707",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GAS1 were changed from Holoprosencephaly to Holoprosencephaly MONDO:0016296",
"entity_name": "GAS1",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:22:51.598191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2706",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GALM were changed from galactosaemia; type IV galactosaemia to galactosaemia; type IV galactosaemia MONDO:0030105",
"entity_name": "GALM",
"entity_type": "gene"
},
{
"created": "2025-07-11T20:06:21.013754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2705",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FST were changed from Cleft lip and palate to Cleft lip and palate MONDO:0016044",
"entity_name": "FST",
"entity_type": "gene"
},
{
"created": "2025-07-11T19:58:10.023233+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2704",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FRY were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092",
"entity_name": "FRY",
"entity_type": "gene"
}
]
}