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Severe Paediatric Disorders v1.177 CPA6 Sarah Leigh Classified gene: CPA6 as Red List (low evidence)
Severe Paediatric Disorders v1.177 CPA6 Sarah Leigh Gene: cpa6 has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.176 CPA6 Sarah Leigh reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v1.153 CPA6 Ian Berry reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 MECP2 Louise Daugherty Mode of inheritance for gene MECP2 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)
Severe Paediatric Disorders v0.17 MCPH1 Louise Daugherty Mode of inheritance for gene MCPH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DCPS Louise Daugherty Mode of inheritance for gene DCPS was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPT2 Louise Daugherty Mode of inheritance for gene CPT2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPT1A Louise Daugherty Mode of inheritance for gene CPT1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPS1 Louise Daugherty Mode of inheritance for gene CPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CPOX Louise Daugherty Mode of inheritance for gene CPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CPA6 Louise Daugherty Mode of inheritance for gene CPA6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CP Louise Daugherty Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACP5 Louise Daugherty Mode of inheritance for gene ACP5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 WDPCP Louise Daugherty reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SCP2 Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPT1C Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBGCP6 Louise Daugherty reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TUBGCP4 Louise Daugherty reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MECP2 Louise Daugherty reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCPH1 Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCPS Louise Daugherty reviewed gene: DCPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPT2 Louise Daugherty reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPT1A Louise Daugherty reviewed gene: CPT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPS1 Louise Daugherty reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPOX Louise Daugherty reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C5orf42 Louise Daugherty edited their review of gene: C5orf42: 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: CPLANE1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 17, 614615 (3) | Orofaciodigital syndrome VI, 277170 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CPA6 Louise Daugherty reviewed gene: CPA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACP5 Louise Daugherty reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 WDPCP Louise Daugherty Publications for gene WDPCP were updated from to 30847515
Severe Paediatric Disorders v0.11 SCP2 Louise Daugherty Publications for gene SCP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CPT1C Louise Daugherty Publications for gene CPT1C were updated from to 30847515
Severe Paediatric Disorders v0.11 VCP Louise Daugherty Publications for gene VCP were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBGCP6 Louise Daugherty Publications for gene TUBGCP6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBGCP4 Louise Daugherty Publications for gene TUBGCP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TECPR2 Louise Daugherty Publications for gene TECPR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MECP2 Louise Daugherty Publications for gene MECP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCPH1 Louise Daugherty Publications for gene MCPH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 DCPS Louise Daugherty Publications for gene DCPS were updated from to 30847515
Severe Paediatric Disorders v0.11 CPT2 Louise Daugherty Publications for gene CPT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CPT1A Louise Daugherty Publications for gene CPT1A were updated from to 30847515
Severe Paediatric Disorders v0.11 CPS1 Louise Daugherty Publications for gene CPS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CPOX Louise Daugherty Publications for gene CPOX were updated from to 30847515
Severe Paediatric Disorders v0.11 CPA6 Louise Daugherty Publications for gene CPA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 CP Louise Daugherty Publications for gene CP were updated from to 30847515
Severe Paediatric Disorders v0.11 ACP5 Louise Daugherty Publications for gene ACP5 were updated from to 30847515
Severe Paediatric Disorders v0.10 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.10 WDPCP Louise Daugherty Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.10 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.10 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.10 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.10 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.10 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.10 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.10 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.10 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.10 DCPS Louise Daugherty Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS
Severe Paediatric Disorders v0.10 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.10 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.10 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.10 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.10 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.10 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.10 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.9 WDPCP Louise Daugherty Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.9 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.9 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.9 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.9 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.9 DCPS Louise Daugherty Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS
Severe Paediatric Disorders v0.9 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.9 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.9 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.9 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.9 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.9 WDPCP Louise Daugherty Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.9 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.9 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.9 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.9 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.9 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
Severe Paediatric Disorders v0.9 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.9 DCPS Louise Daugherty Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS
Severe Paediatric Disorders v0.9 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, myopathic, stress-induced, 255110; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836 for gene: CPT2
Severe Paediatric Disorders v0.9 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.9 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.9 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.9 CPA6 Louise Daugherty Added phenotypes Epilepsy, familial temporal lobe, 5, 614417; Febrile seizures, familial, 11, 614418 for gene: CPA6
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.8 KIRREL3 Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.8 WDPCP Louise Daugherty Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.8 SCP2 Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.8 CPT1C Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 TUBGCP6 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.8 TUBGCP4 Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.8 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.8 MECP2 Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Mental retardation, X-linked, syndromic 13, 300055; Encephalopathy, neonatal severe, 300673 for gene: MECP2
Severe Paediatric Disorders v0.8 MCPH1 Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
Severe Paediatric Disorders v0.8 DCPS Louise Daugherty Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS
Severe Paediatric Disorders v0.8 CPT2 Louise Daugherty Added phenotypes CPT II deficiency, lethal neonatal, 608836; CPT II deficiency, infantile, 600649; CPT II deficiency, myopathic, stress-induced, 255110 for gene: CPT2
Severe Paediatric Disorders v0.8 CPT1A Louise Daugherty Added phenotypes CPT deficiency, hepatic, type IA, 255120 for gene: CPT1A
Severe Paediatric Disorders v0.8 CPS1 Louise Daugherty Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 for gene: CPS1
Severe Paediatric Disorders v0.8 CPOX Louise Daugherty Added phenotypes Harderoporphyria, 121300; Coproporphyria, 121300 for gene: CPOX
Severe Paediatric Disorders v0.8 CPA6 Louise Daugherty Added phenotypes Febrile seizures, familial, 11, 614418; Epilepsy, familial temporal lobe, 5, 614417 for gene: CPA6
Severe Paediatric Disorders v0.8 CP Louise Daugherty Added phenotypes Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 for gene: CP
Severe Paediatric Disorders v0.8 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.8 KIRREL3 Louise Daugherty Mode of inheritance for gene KIRREL3 was changed from to Unknown
Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
Severe Paediatric Disorders v0.8 WDPCP Louise Daugherty Mode of inheritance for gene WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
Severe Paediatric Disorders v0.8 SCP2 Louise Daugherty Mode of inheritance for gene SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
Severe Paediatric Disorders v0.8 CPT1C Louise Daugherty Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Mode of inheritance for gene VCP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 TUBGCP6 Louise Daugherty Mode of inheritance for gene TUBGCP6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
Severe Paediatric Disorders v0.8 TUBGCP4 Louise Daugherty Mode of inheritance for gene TUBGCP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
Severe Paediatric Disorders v0.8 TECPR2 Louise Daugherty Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Severe Paediatric Disorders v0.7 WDPCP Louise Daugherty Source Next Generation Children Project was added to WDPCP.
Severe Paediatric Disorders v0.7 SCP2 Louise Daugherty Source Next Generation Children Project was added to SCP2.
Severe Paediatric Disorders v0.7 CPT1C Louise Daugherty Source Next Generation Children Project was added to CPT1C.
Severe Paediatric Disorders v0.7 VCP Louise Daugherty Source Next Generation Children Project was added to VCP.
Severe Paediatric Disorders v0.7 TUBGCP6 Louise Daugherty Source Next Generation Children Project was added to TUBGCP6.
Severe Paediatric Disorders v0.7 TUBGCP4 Louise Daugherty Source Next Generation Children Project was added to TUBGCP4.
Severe Paediatric Disorders v0.7 TECPR2 Louise Daugherty Source Next Generation Children Project was added to TECPR2.
Severe Paediatric Disorders v0.7 MECP2 Louise Daugherty Source Next Generation Children Project was added to MECP2.
Severe Paediatric Disorders v0.7 MCPH1 Louise Daugherty Source Next Generation Children Project was added to MCPH1.
Severe Paediatric Disorders v0.7 DCPS Louise Daugherty Source Next Generation Children Project was added to DCPS.
Severe Paediatric Disorders v0.7 CPT2 Louise Daugherty Source Next Generation Children Project was added to CPT2.
Severe Paediatric Disorders v0.7 CPT1A Louise Daugherty Source Next Generation Children Project was added to CPT1A.
Severe Paediatric Disorders v0.7 CPS1 Louise Daugherty Source Next Generation Children Project was added to CPS1.
Severe Paediatric Disorders v0.7 CPOX Louise Daugherty Source Next Generation Children Project was added to CPOX.
Severe Paediatric Disorders v0.7 CPA6 Louise Daugherty Source Next Generation Children Project was added to CPA6.
Severe Paediatric Disorders v0.7 CP Louise Daugherty Source Next Generation Children Project was added to CP.
Severe Paediatric Disorders v0.7 ACP5 Louise Daugherty Source Next Generation Children Project was added to ACP5.
Severe Paediatric Disorders v0.5 WDPCP Louise Daugherty Source Expert Review Amber was added to WDPCP.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 SCP2 Louise Daugherty Source Expert Review Amber was added to SCP2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 CPT1C Louise Daugherty Source Expert Review Amber was added to CPT1C.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 VCP Louise Daugherty Source Expert Review Green was added to VCP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBGCP6 Louise Daugherty Source Expert Review Green was added to TUBGCP6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TUBGCP4 Louise Daugherty Source Expert Review Green was added to TUBGCP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TECPR2 Louise Daugherty Source Expert Review Green was added to TECPR2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MECP2 Louise Daugherty Source Expert Review Green was added to MECP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MCPH1 Louise Daugherty Source Expert Review Green was added to MCPH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DCPS Louise Daugherty Source Expert Review Green was added to DCPS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CPT2 Louise Daugherty Source Expert Review Green was added to CPT2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CPT1A Louise Daugherty Source Expert Review Green was added to CPT1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CPS1 Louise Daugherty Source Expert Review Green was added to CPS1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CPOX Louise Daugherty Source Expert Review Green was added to CPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CPA6 Louise Daugherty Source Expert Review Green was added to CPA6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CP Louise Daugherty Source Expert Review Green was added to CP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ACP5 Louise Daugherty Source Expert Review Green was added to ACP5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 WDPCP Louise Daugherty gene: WDPCP was added
gene: WDPCP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: WDPCP was set to
Severe Paediatric Disorders v0.4 SCP2 Louise Daugherty gene: SCP2 was added
gene: SCP2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SCP2 was set to
Severe Paediatric Disorders v0.4 CPT1C Louise Daugherty gene: CPT1C was added
gene: CPT1C was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPT1C was set to
Severe Paediatric Disorders v0.4 VCP Louise Daugherty gene: VCP was added
gene: VCP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: VCP was set to
Severe Paediatric Disorders v0.4 TUBGCP6 Louise Daugherty gene: TUBGCP6 was added
gene: TUBGCP6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBGCP6 was set to
Severe Paediatric Disorders v0.4 TUBGCP4 Louise Daugherty gene: TUBGCP4 was added
gene: TUBGCP4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TUBGCP4 was set to
Severe Paediatric Disorders v0.4 TECPR2 Louise Daugherty gene: TECPR2 was added
gene: TECPR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TECPR2 was set to
Severe Paediatric Disorders v0.4 MECP2 Louise Daugherty gene: MECP2 was added
gene: MECP2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MECP2 was set to
Severe Paediatric Disorders v0.4 MCPH1 Louise Daugherty gene: MCPH1 was added
gene: MCPH1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MCPH1 was set to
Severe Paediatric Disorders v0.4 DCPS Louise Daugherty gene: DCPS was added
gene: DCPS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DCPS was set to
Severe Paediatric Disorders v0.4 CPT2 Louise Daugherty gene: CPT2 was added
gene: CPT2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPT2 was set to
Severe Paediatric Disorders v0.4 CPT1A Louise Daugherty gene: CPT1A was added
gene: CPT1A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPT1A was set to
Severe Paediatric Disorders v0.4 CPS1 Louise Daugherty gene: CPS1 was added
gene: CPS1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPS1 was set to
Severe Paediatric Disorders v0.4 CPOX Louise Daugherty gene: CPOX was added
gene: CPOX was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPOX was set to
Severe Paediatric Disorders v0.4 CPA6 Louise Daugherty gene: CPA6 was added
gene: CPA6 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CPA6 was set to
Severe Paediatric Disorders v0.4 CP Louise Daugherty gene: CP was added
gene: CP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CP was set to
Severe Paediatric Disorders v0.4 ACP5 Louise Daugherty gene: ACP5 was added
gene: ACP5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ACP5 was set to