Activity

Filter

Cancel
Date Panel Item Activity
56 actions
Severe Paediatric Disorders v1.126 GNAI1 Sarah Leigh Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
Severe Paediatric Disorders v1.74 DOCK3 Sarah Leigh Phenotypes for gene: DOCK3 were changed from Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292; neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Severe Paediatric Disorders v1.6 MCM3AP Eleanor Williams reviewed gene: MCM3AP: Rating: ; Mode of pathogenicity: None; Publications: 32202298; Phenotypes: peripheral neuropathy with or without impaired intellectual development, 618124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AIRE Louise Daugherty Mode of inheritance for gene AIRE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 IARS Louise Daugherty edited their review of gene: IARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 AIRE Louise Daugherty reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 AIRE Louise Daugherty Publications for gene AIRE were updated from to 30847515
Severe Paediatric Disorders v0.10 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.10 TRMT10A Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.10 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.10 PPP1R15B Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 for gene: PPP1R15B
Severe Paediatric Disorders v0.10 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.10 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.10 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.10 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.10 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.10 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
Severe Paediatric Disorders v0.10 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.9 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.9 TRMT10A Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 PPP1R15B Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 for gene: PPP1R15B
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.9 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.9 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.9 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.9 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
Severe Paediatric Disorders v0.9 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.9 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.9 TRMT10A Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 PPP1R15B Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 for gene: PPP1R15B
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.9 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.9 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.9 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.9 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
Severe Paediatric Disorders v0.9 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.8 ZNF142 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.8 TRMT10A Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.8 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.8 PPP1R15B Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 for gene: PPP1R15B
Severe Paediatric Disorders v0.8 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, with impaired proprioception and touch, 617146; Arthrogryposis, distal, type 5, 108145 for gene: PIEZO2
Severe Paediatric Disorders v0.8 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.8 MCM3AP Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
Severe Paediatric Disorders v0.8 IARS Louise Daugherty Added phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 for gene: IARS
Severe Paediatric Disorders v0.8 DOCK3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 for gene: DOCK3
Severe Paediatric Disorders v0.8 CUX1 Louise Daugherty Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
Severe Paediatric Disorders v0.8 AIRE Louise Daugherty Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 for gene: AIRE
Severe Paediatric Disorders v0.8 ZNF142 Louise Daugherty Mode of inheritance for gene ZNF142 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Severe Paediatric Disorders v0.8 TRMT10A Louise Daugherty Mode of inheritance for gene TRMT10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
Severe Paediatric Disorders v0.7 AIRE Louise Daugherty Source Next Generation Children Project was added to AIRE.
Severe Paediatric Disorders v0.5 AIRE Louise Daugherty Source Expert Review Green was added to AIRE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 AIRE Louise Daugherty gene: AIRE was added
gene: AIRE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AIRE was set to