{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1025","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1023","results":[{"created":"2022-01-27T11:09:40.613540+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.39","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIK3R5 was added\ngene: PIK3R5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3R5 were set to PubMed: 22065524\nPhenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217\nReview for gene: PIK3R5 was set to RED\nAdded comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region. \nSources: Literature","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T11:09:22.135143+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.318","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIK3R5 was added\ngene: PIK3R5 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3R5 were set to PubMed: 22065524\nPhenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3, OMIM #615217\nReview for gene: PIK3R5 was set to RED\nAdded comment: Al Tassan et al. (2012) reported 4 sibs, from consanguineous Saudi Arabian family, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and dysarthria. He became wheelchair-bound at age 23. Ocular movement was impaired, with slowed saccadic eye movements and head-eye lag resulting in head thrust, but smooth pursuit was normal. He had severe limb and axial dysmetria with mild distal atrophy and weakness affecting the lower limbs more than the upper limbs. He also had distal sensory impairment, more prominent in the lower limbs, areflexia, and axonal sensory polyneuropathy with absent sensory nerve action potentials in the lower limbs. Laboratory studies showed increased level of alpha-fetoprotein, and brain MRI showed atrophy of the cerebellar folia and vermis. His 3 sibs were similarly affected. A homozygous mutation in the PIK3R5 gene (P629S) was found by linkage analysis followed by sequencing of the genes within the region. \nSources: Literature","entity_name":"PIK3R5","entity_type":"gene"},{"created":"2022-01-27T10:55:56.321596+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.317","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PIGS as Green List (high evidence)","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:55:56.309827+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.317","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pigs has been classified as Green List (High Evidence).","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:55:39.581096+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.316","user_name":"Chirag Patel","item_type":"entity","text":"gene: PIGS was added\ngene: PIGS was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGS were set to PubMed: 30269814, 33410539\nPhenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143\nReview for gene: PIGS was set to GREEN\nAdded comment: DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls. \nSources: Literature","entity_name":"PIGS","entity_type":"gene"},{"created":"2022-01-27T10:39:18.784211+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NUBPL as Green List (high evidence)","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:39:18.774669+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.315","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nubpl has been classified as Green List (High Evidence).","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:38:00.391038+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.314","user_name":"Chirag Patel","item_type":"entity","text":"gene: NUBPL was added\ngene: NUBPL was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUBPL were set to PubMed: 23553477, 32518176,\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242\nReview for gene: NUBPL was set to GREEN\nAdded comment: Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia. \nSources: Literature","entity_name":"NUBPL","entity_type":"gene"},{"created":"2022-01-27T10:33:04.973027+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:33:04.962298+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:49.035717+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:49.018699+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.38","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:46.385700+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:46.374549+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:40.942804+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:40.930650+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.313","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:32:02.840640+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.37","user_name":"Chirag Patel","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to PMID: 32197073\nPhenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:31:59.213516+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.312","user_name":"Chirag Patel","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to PMID: 32197073\nPhenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2022-01-27T10:22:25.109899+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"gene: AL592103.1 was added\ngene: AL592103.1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: AL592103.1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AL592103.1 were set to PMID: 30151950\nPhenotypes for gene: AL592103.1 were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis\nReview for gene: AL592103.1 was set to RED\nAdded comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. \nSources: Literature","entity_name":"AL592103.1","entity_type":"gene"},{"created":"2022-01-27T10:20:10.527125+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC45A1 as ready","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:20:10.511411+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:20:07.276296+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC45A1 were changed from  to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:19:31.256650+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to ","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:19:02.245336+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC45A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:18:33.681206+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Amber List (moderate evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:18:33.670251+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:31.722830+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC45A1 as ready","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:31.706756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Red List (Low Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:26.969711+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC45A1 were changed from Intellectual disability and epilepsy to Intellectual developmental disorder with neuropsychiatric features, MIM# 617532","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:13.350606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to ","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:03.269531+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Red List (low evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:17:03.255693+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Red List (Low Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:16:51.295288+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.\r\n\r\nTwo families reported and some functional data.; to: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present.\r\n\r\nTwo families reported and some functional data.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:16:18.948666+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC45A1: Changed rating: RED","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2022-01-27T10:15:47.529530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A1 as ready","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:47.517708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:43.643456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIf, MIM# 603585","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:32.000738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2819","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A1 were set to ","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:15:06.955140+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2818","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, variable severity, including onset. Microcephaly reported, but onset uncertain.","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:14:43.653709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.2818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35A1: Changed rating: AMBER","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2022-01-27T10:12:21.135059+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAT1 as ready","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:12:21.121189+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:12:17.753129+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:11:53.449462+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:31.198620+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAT1 as ready","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:31.189166+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:10:28.163554+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T10:08:54.508068+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHP1 as ready","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:54.496968+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:44.082741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHP1 as Green List (high evidence)","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:44.072003+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:08:25.450361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10793","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHP1 was added\ngene: CHP1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to 29379881; 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, MIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.\r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Expert Review","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:49.797385+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHP1 as ready","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:49.787746+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:45.316699+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHP1 were set to PMID: 29379881, 32787936","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:28.828512+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHP1 as Amber List (moderate evidence)","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:28.815873+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Amber List (Moderate Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:06:13.924235+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 9, autosomal recessive, OMIM #618438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:03:21.443681+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHP1 as ready","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:03:21.430359+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T10:03:18.242869+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHP1 were set to PMID: 29379881, 32787936","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:58:22.632376+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 to Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-27T09:57:29.959223+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-27T09:56:44.465235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10792","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621; Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-27T09:56:15.339077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10791","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708","entity_name":"PI4KA","entity_type":"gene"},{"created":"2022-01-27T09:42:19.776694+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:41:51.763373+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FNIP1: Changed phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:41:22.226877+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:39:04.101484+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, Neutropenia, Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:38:41.660310+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, NeutropeniaImmunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:38:21.186056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:37:51.756070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10790","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FNIP1","entity_type":"gene"},{"created":"2022-01-27T09:36:24.690619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10790","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, MIM# 615314; Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallman syndrome","entity_name":"TCF12","entity_type":"gene"},{"created":"2022-01-27T09:35:58.376267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10789","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCF12: Changed phenotypes: Craniosynostosis 3, MIM# 615314, Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallman syndrome","entity_name":"TCF12","entity_type":"gene"},{"created":"2022-01-27T09:35:28.421413+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF12 were changed from Kallmann syndrome to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome","entity_name":"TCF12","entity_type":"gene"},{"created":"2022-01-27T09:28:28.989725+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCF12: Changed phenotypes: Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallmann syndrome","entity_name":"TCF12","entity_type":"gene"},{"created":"2022-01-27T09:19:12.238924+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707","entity_name":"SPI1","entity_type":"gene"},{"created":"2022-01-27T09:18:46.014663+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707","entity_name":"SPI1","entity_type":"gene"},{"created":"2022-01-27T09:18:21.887015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10789","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707","entity_name":"SPI1","entity_type":"gene"},{"created":"2022-01-27T09:17:58.873458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10788","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707","entity_name":"SPI1","entity_type":"gene"},{"created":"2022-01-27T09:13:22.662208+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.33","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CHP1 as Green List (high evidence)","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:13:22.651808+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.33","user_name":"Chirag Patel","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:12:37.058233+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.32","user_name":"Chirag Patel","item_type":"entity","text":"gene: CHP1 was added\ngene: CHP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to PMID: 29379881, 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.\r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Literature","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:12:06.385311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYS1 as ready","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:12:06.375151+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cys1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:11:52.585323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYS1 as Amber List (moderate evidence)","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:11:52.572080+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cys1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:11:23.220568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10787","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYS1 was added\ngene: CYS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYS1 were set to 34521872\nPhenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642\nReview for gene: CYS1 was set to AMBER\nAdded comment: Single family reported. However, extensive experimental data, including mouse model. \nSources: Literature","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:10:55.492760+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.308","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CHP1 as Green List (high evidence)","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:10:55.480972+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.308","user_name":"Chirag Patel","item_type":"entity","text":"Gene: chp1 has been classified as Green List (High Evidence).","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:10:18.512694+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.307","user_name":"Chirag Patel","item_type":"entity","text":"gene: CHP1 was added\ngene: CHP1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to PMID: 29379881, 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family. \r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Literature","entity_name":"CHP1","entity_type":"gene"},{"created":"2022-01-27T09:08:21.320642+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYS1 as ready","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:08:21.310859+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cys1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:08:13.366850+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYS1 as Amber List (moderate evidence)","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:08:13.356406+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cys1 has been classified as Amber List (Moderate Evidence).","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T09:07:48.257265+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYS1 was added\ngene: CYS1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYS1 were set to 34521872\nPhenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642\nReview for gene: CYS1 was set to AMBER\nAdded comment: Single family reported. However, extensive experimental data, including mouse model. \nSources: Literature","entity_name":"CYS1","entity_type":"gene"},{"created":"2022-01-27T08:56:36.584759+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.306","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRAT1 as Green List (high evidence)","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T08:56:36.567990+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.306","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T08:56:31.608286+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.31","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BRAT1 as Green List (high evidence)","entity_name":"BRAT1","entity_type":"gene"},{"created":"2022-01-27T08:56:31.597485+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.31","user_name":"Chirag Patel","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"}]}