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Severe Paediatric Disorders v1.173 C9orf72 Dmitrijs Rots reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v0.17 C19orf70 Louise Daugherty Mode of inheritance for gene C19orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF7 Louise Daugherty Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 F7 Louise Daugherty Mode of inheritance for gene F7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C11orf70 Louise Daugherty Mode of inheritance for gene C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C9orf72 Louise Daugherty Mode of inheritance for gene C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 IRF7 Louise Daugherty reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ZNF711 Louise Daugherty reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TRAF7 Louise Daugherty reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C2orf71 Louise Daugherty edited their review of gene: C2orf71: 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: PCARE; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinitis pigmentosa 54, 613428 (3); Mode of inheritance: ND; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C19orf70 Louise Daugherty edited their review of gene: C19orf70: 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: MICOS13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KIF7 Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F7 Louise Daugherty reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C11orf70 Louise Daugherty edited their review of gene: C11orf70: 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: CFAP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 38, 618063 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 IRF7 Louise Daugherty Publications for gene IRF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF711 Louise Daugherty Publications for gene ZNF711 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAF7 Louise Daugherty Publications for gene TRAF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 C2orf71 Louise Daugherty Publications for gene C2orf71 were updated from to 30847515
Severe Paediatric Disorders v0.11 C19orf70 Louise Daugherty Publications for gene C19orf70 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF7 Louise Daugherty Publications for gene KIF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 F7 Louise Daugherty Publications for gene F7 were updated from to 30847515
Severe Paediatric Disorders v0.11 C11orf70 Louise Daugherty Publications for gene C11orf70 were updated from to 30847515
Severe Paediatric Disorders v0.11 C9orf72 Louise Daugherty Publications for gene C9orf72 were updated from to 30847515
Severe Paediatric Disorders v0.11 C2orf71 Louise Daugherty Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 IRF7 Louise Daugherty Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.10 ZNF711 Louise Daugherty Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.10 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.10 C2orf71 Louise Daugherty Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Severe Paediatric Disorders v0.10 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.10 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
Severe Paediatric Disorders v0.10 F7 Louise Daugherty Added phenotypes Factor VII deficiency, 227500 for gene: F7
Severe Paediatric Disorders v0.10 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.10 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 IRF7 Louise Daugherty Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.9 ZNF711 Louise Daugherty Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.9 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.9 C2orf71 Louise Daugherty Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Severe Paediatric Disorders v0.9 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.9 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
Severe Paediatric Disorders v0.9 F7 Louise Daugherty Added phenotypes Factor VII deficiency, 227500 for gene: F7
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 IRF7 Louise Daugherty Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.9 ZNF711 Louise Daugherty Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.9 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.9 C2orf71 Louise Daugherty Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Severe Paediatric Disorders v0.9 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.9 KIF7 Louise Daugherty Added phenotypes Acrocallosal syndrome, 200990; Joubert syndrome 12, 200990; ?Al-Gazali-Bakalinova syndrome, 607131; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
Severe Paediatric Disorders v0.9 F7 Louise Daugherty Added phenotypes Factor VII deficiency, 227500 for gene: F7
Severe Paediatric Disorders v0.9 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.8 IRF7 Louise Daugherty Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.8 ZNF711 Louise Daugherty Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.8 TRAF7 Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.8 C2orf71 Louise Daugherty Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
Severe Paediatric Disorders v0.8 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.8 KIF7 Louise Daugherty Added phenotypes ?Al-Gazali-Bakalinova syndrome, 607131; Joubert syndrome 12, 200990; Acrocallosal syndrome, 200990; ?Hydrolethalus syndrome 2, 614120 for gene: KIF7
Severe Paediatric Disorders v0.8 F7 Louise Daugherty Added phenotypes Factor VII deficiency, 227500 for gene: F7
Severe Paediatric Disorders v0.8 C11orf70 Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 38, 618063 for gene: C11orf70
Severe Paediatric Disorders v0.8 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.8 IRF7 Louise Daugherty Mode of inheritance for gene IRF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
Severe Paediatric Disorders v0.8 ZNF711 Louise Daugherty Mode of inheritance for gene ZNF711 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.8 TRAF7 Louise Daugherty Mode of inheritance for gene TRAF7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
Severe Paediatric Disorders v0.7 C2orf71 Louise Daugherty commented on gene: C2orf71
Severe Paediatric Disorders v0.7 C19orf70 Louise Daugherty commented on gene: C19orf70
Severe Paediatric Disorders v0.7 C11orf70 Louise Daugherty commented on gene: C11orf70
Severe Paediatric Disorders v0.7 IRF7 Louise Daugherty Source Next Generation Children Project was added to IRF7.
Severe Paediatric Disorders v0.7 ZNF711 Louise Daugherty Source Next Generation Children Project was added to ZNF711.
Severe Paediatric Disorders v0.7 TRAF7 Louise Daugherty Source Next Generation Children Project was added to TRAF7.
Severe Paediatric Disorders v0.7 C2orf71 Louise Daugherty Source Next Generation Children Project was added to C2orf71.
Severe Paediatric Disorders v0.7 C19orf70 Louise Daugherty Source Next Generation Children Project was added to C19orf70.
Severe Paediatric Disorders v0.7 KIF7 Louise Daugherty Source Next Generation Children Project was added to KIF7.
Severe Paediatric Disorders v0.6 C2orf71 Louise Daugherty Tag new-gene-name tag was added to gene: C2orf71.
Severe Paediatric Disorders v0.6 C19orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C19orf70.
Severe Paediatric Disorders v0.6 C11orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C11orf70.
Severe Paediatric Disorders v0.7 F7 Louise Daugherty Source Next Generation Children Project was added to F7.
Severe Paediatric Disorders v0.7 C11orf70 Louise Daugherty Source Next Generation Children Project was added to C11orf70.
Severe Paediatric Disorders v0.7 C9orf72 Louise Daugherty Source Next Generation Children Project was added to C9orf72.
Severe Paediatric Disorders v0.5 IRF7 Louise Daugherty Source Expert Review Amber was added to IRF7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 ZNF711 Louise Daugherty Source Expert Review Green was added to ZNF711.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TRAF7 Louise Daugherty Source Expert Review Green was added to TRAF7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C2orf71 Louise Daugherty Source Expert Review Green was added to C2orf71.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C19orf70 Louise Daugherty Source Expert Review Green was added to C19orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF7 Louise Daugherty Source Expert Review Green was added to KIF7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 F7 Louise Daugherty Source Expert Review Green was added to F7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C11orf70 Louise Daugherty Source Expert Review Green was added to C11orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C9orf72 Louise Daugherty Source Expert Review Green was added to C9orf72.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 IRF7 Louise Daugherty gene: IRF7 was added
gene: IRF7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IRF7 was set to
Severe Paediatric Disorders v0.4 ZNF711 Louise Daugherty gene: ZNF711 was added
gene: ZNF711 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ZNF711 was set to
Severe Paediatric Disorders v0.4 TRAF7 Louise Daugherty gene: TRAF7 was added
gene: TRAF7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to
Severe Paediatric Disorders v0.4 C2orf71 Louise Daugherty gene: C2orf71 was added
gene: C2orf71 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C2orf71 was set to
Severe Paediatric Disorders v0.4 C19orf70 Louise Daugherty gene: C19orf70 was added
gene: C19orf70 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C19orf70 was set to
Severe Paediatric Disorders v0.4 KIF7 Louise Daugherty gene: KIF7 was added
gene: KIF7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF7 was set to
Severe Paediatric Disorders v0.4 F7 Louise Daugherty gene: F7 was added
gene: F7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F7 was set to
Severe Paediatric Disorders v0.4 C11orf70 Louise Daugherty gene: C11orf70 was added
gene: C11orf70 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C11orf70 was set to
Severe Paediatric Disorders v0.4 C9orf72 Louise Daugherty gene: C9orf72 was added
gene: C9orf72 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C9orf72 was set to