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Severe Paediatric Disorders v1.133 ZNF292 Sarah Leigh Publications for gene: ZNF292 were set to 30847515
Severe Paediatric Disorders v1.132 ZNF292 Sarah Leigh Classified gene: ZNF292 as Green List (high evidence)
Severe Paediatric Disorders v1.132 ZNF292 Sarah Leigh Gene: znf292 has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.131 ZNF292 Sarah Leigh reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v1.131 ZNF292 Sarah Leigh Mode of inheritance for gene: ZNF292 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v1.130 ZNF292 Sarah Leigh Phenotypes for gene: ZNF292 were changed from ?Tetra-amelia syndrome 1, 273395 to Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; intellectual developmental disorder, autosomal dominant 64, MONDO:0030934
Severe Paediatric Disorders v1.123 PRODH Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Severe Paediatric Disorders v1.84 CSF2RA Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Severe Paediatric Disorders v0.17 MEF2C Louise Daugherty Mode of inheritance for gene MEF2C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF2A Louise Daugherty Mode of inheritance for gene KIF2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF23 Louise Daugherty Mode of inheritance for gene KIF23 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 KIF22 Louise Daugherty Mode of inheritance for gene KIF22 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 KIF21A Louise Daugherty Mode of inheritance for gene KIF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 IRF2BPL Louise Daugherty Mode of inheritance for gene IRF2BPL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 INF2 Louise Daugherty Mode of inheritance for gene INF2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 IGF2 Louise Daugherty Mode of inheritance for gene IGF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GTF2H5 Louise Daugherty Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 FGF23 Louise Daugherty Mode of inheritance for gene FGF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 F2 Louise Daugherty Mode of inheritance for gene F2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2S3 Louise Daugherty Mode of inheritance for gene EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 EIF2B5 Louise Daugherty Mode of inheritance for gene EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B4 Louise Daugherty Mode of inheritance for gene EIF2B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B3 Louise Daugherty Mode of inheritance for gene EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B2 Louise Daugherty Mode of inheritance for gene EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2B1 Louise Daugherty Mode of inheritance for gene EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 EIF2AK3 Louise Daugherty Mode of inheritance for gene EIF2AK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DPF2 Louise Daugherty Mode of inheritance for gene DPF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CYP4F22 Louise Daugherty Mode of inheritance for gene CYP4F22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSF2RB Louise Daugherty Mode of inheritance for gene CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CSF2RA Louise Daugherty Mode of inheritance for gene CSF2RA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 C21orf2 Louise Daugherty Mode of inheritance for gene C21orf2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ARFGEF2 Louise Daugherty Mode of inheritance for gene ARFGEF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AFF2 Louise Daugherty Mode of inheritance for gene AFF2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 ZNF292 Louise Daugherty reviewed gene: ZNF292: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATPAF2 Louise Daugherty reviewed gene: ATPAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TINF2 Louise Daugherty reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TCF20 Louise Daugherty reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SERPINF2 Louise Daugherty reviewed gene: SERPINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SCARF2 Louise Daugherty reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SBF2 Louise Daugherty reviewed gene: SBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PHF21A Louise Daugherty reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 PCGF2 Louise Daugherty reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C4orf26 Louise Daugherty edited their review of gene: C4orf26: 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: ODAPH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amelogenesis imperfecta, type IIA4, 614832 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 NR2F2 Louise Daugherty reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NF2 Louise Daugherty reviewed gene: NF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NDUFAF2 Louise Daugherty reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NCF2 Louise Daugherty reviewed gene: NCF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEF2C Louise Daugherty reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF2A Louise Daugherty reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF23 Louise Daugherty reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF22 Louise Daugherty reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF21A Louise Daugherty reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRF2BPL Louise Daugherty reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INF2 Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGF2 Louise Daugherty reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GTF2H5 Louise Daugherty reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF23 Louise Daugherty reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F2 Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2S3 Louise Daugherty reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2AK3 Louise Daugherty reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPF2 Louise Daugherty reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP4F22 Louise Daugherty reviewed gene: CYP4F22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF2RB Louise Daugherty reviewed gene: CSF2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF2RA Louise Daugherty reviewed gene: CSF2RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C21orf2 Louise Daugherty edited their review of gene: C21orf2: 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: CFAP410; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinal dystrophy with macular staphyloma, 617547 (3) | Spondylometaphyseal dysplasia, axial, 602271 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ARFGEF2 Louise Daugherty reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AFF2 Louise Daugherty reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ZNF292 Louise Daugherty Publications for gene ZNF292 were updated from to 30847515
Severe Paediatric Disorders v0.11 ATPAF2 Louise Daugherty Publications for gene ATPAF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TINF2 Louise Daugherty Publications for gene TINF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF20 Louise Daugherty Publications for gene TCF20 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINF2 Louise Daugherty Publications for gene SERPINF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCARF2 Louise Daugherty Publications for gene SCARF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SBF2 Louise Daugherty Publications for gene SBF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF216 Louise Daugherty Publications for gene RNF216 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHF21A Louise Daugherty Publications for gene PHF21A were updated from to 30847515
Severe Paediatric Disorders v0.11 PCGF2 Louise Daugherty Publications for gene PCGF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 C4orf26 Louise Daugherty Publications for gene C4orf26 were updated from to 30847515
Severe Paediatric Disorders v0.11 NR2F2 Louise Daugherty Publications for gene NR2F2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NF2 Louise Daugherty Publications for gene NF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF2 Louise Daugherty Publications for gene NDUFAF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NCF2 Louise Daugherty Publications for gene NCF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEF2C Louise Daugherty Publications for gene MEF2C were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF2A Louise Daugherty Publications for gene KIF2A were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF23 Louise Daugherty Publications for gene KIF23 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF22 Louise Daugherty Publications for gene KIF22 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF21A Louise Daugherty Publications for gene KIF21A were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF2BPL Louise Daugherty Publications for gene IRF2BPL were updated from to 30847515
Severe Paediatric Disorders v0.11 INF2 Louise Daugherty Publications for gene INF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 IGF2 Louise Daugherty Publications for gene IGF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 GTF2H5 Louise Daugherty Publications for gene GTF2H5 were updated from to 30847515
Severe Paediatric Disorders v0.11 FGF23 Louise Daugherty Publications for gene FGF23 were updated from to 30847515
Severe Paediatric Disorders v0.11 F2 Louise Daugherty Publications for gene F2 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2S3 Louise Daugherty Publications for gene EIF2S3 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2B5 Louise Daugherty Publications for gene EIF2B5 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2B4 Louise Daugherty Publications for gene EIF2B4 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2B3 Louise Daugherty Publications for gene EIF2B3 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2B2 Louise Daugherty Publications for gene EIF2B2 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2B1 Louise Daugherty Publications for gene EIF2B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 EIF2AK3 Louise Daugherty Publications for gene EIF2AK3 were updated from to 30847515
Severe Paediatric Disorders v0.11 DPF2 Louise Daugherty Publications for gene DPF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CYP4F22 Louise Daugherty Publications for gene CYP4F22 were updated from to 30847515
Severe Paediatric Disorders v0.11 CSF2RB Louise Daugherty Publications for gene CSF2RB were updated from to 30847515
Severe Paediatric Disorders v0.11 CSF2RA Louise Daugherty Publications for gene CSF2RA were updated from to 30847515
Severe Paediatric Disorders v0.11 C21orf2 Louise Daugherty Publications for gene C21orf2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ARFGEF2 Louise Daugherty Publications for gene ARFGEF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 AFF2 Louise Daugherty Publications for gene AFF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF216 Louise Daugherty Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 PHF21A Louise Daugherty Mode of inheritance for gene PHF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 PCGF2 Louise Daugherty Mode of inheritance for gene PCGF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 C4orf26 Louise Daugherty Mode of inheritance for gene C4orf26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NR2F2 Louise Daugherty Mode of inheritance for gene NR2F2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NF2 Louise Daugherty Mode of inheritance for gene NF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.11 NDUFAF2 Louise Daugherty Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 NCF2 Louise Daugherty Mode of inheritance for gene NCF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 ZNF292 Louise Daugherty Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.10 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.10 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.10 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.10 SERPINF2 Louise Daugherty Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.10 SCARF2 Louise Daugherty Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.10 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.10 RNF216 Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Severe Paediatric Disorders v0.10 PHF21A Louise Daugherty Added phenotypes Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability for gene: PHF21A
Severe Paediatric Disorders v0.10 PCGF2 Louise Daugherty Added phenotypes Turnpenny-Fry syndrome, 618371 for gene: PCGF2
Severe Paediatric Disorders v0.10 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.10 NR2F2 Louise Daugherty Added phenotypes Congenital heart defects, multiple types, 4, 615779 for gene: NR2F2
Severe Paediatric Disorders v0.10 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.10 NDUFAF2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Severe Paediatric Disorders v0.10 NCF2 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 for gene: NCF2
Severe Paediatric Disorders v0.10 MEF2C Louise Daugherty Added phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443 for gene: MEF2C
Severe Paediatric Disorders v0.10 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.10 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
Severe Paediatric Disorders v0.10 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.10 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.10 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.10 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.10 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.10 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.10 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.10 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.10 EIF2S3 Louise Daugherty Added phenotypes MEHMO syndrome, 300148 for gene: EIF2S3
Severe Paediatric Disorders v0.10 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.10 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.10 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.10 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.10 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.10 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.10 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.10 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.10 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.10 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.10 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.10 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.10 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.9 ZNF292 Louise Daugherty Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.9 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.9 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.9 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.9 SERPINF2 Louise Daugherty Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.9 SCARF2 Louise Daugherty Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.9 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.9 RNF216 Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Severe Paediatric Disorders v0.9 PHF21A Louise Daugherty Added phenotypes Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability for gene: PHF21A
Severe Paediatric Disorders v0.9 PCGF2 Louise Daugherty Added phenotypes Turnpenny-Fry syndrome, 618371 for gene: PCGF2
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 NR2F2 Louise Daugherty Added phenotypes Congenital heart defects, multiple types, 4, 615779 for gene: NR2F2
Severe Paediatric Disorders v0.9 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.9 NDUFAF2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Severe Paediatric Disorders v0.9 NCF2 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 for gene: NCF2
Severe Paediatric Disorders v0.9 MEF2C Louise Daugherty Added phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443 for gene: MEF2C
Severe Paediatric Disorders v0.9 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.9 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
Severe Paediatric Disorders v0.9 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.9 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.9 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.9 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.9 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.9 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.9 EIF2S3 Louise Daugherty Added phenotypes MEHMO syndrome, 300148 for gene: EIF2S3
Severe Paediatric Disorders v0.9 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.9 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.9 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.9 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.9 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.9 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.9 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.9 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.9 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.9 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.9 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.9 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.9 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.9 ZNF292 Louise Daugherty Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.9 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.9 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.9 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.9 SERPINF2 Louise Daugherty Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.9 SCARF2 Louise Daugherty Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.9 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.9 RNF216 Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Severe Paediatric Disorders v0.9 PHF21A Louise Daugherty Added phenotypes Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability for gene: PHF21A
Severe Paediatric Disorders v0.9 PCGF2 Louise Daugherty Added phenotypes Turnpenny-Fry syndrome, 618371 for gene: PCGF2
Severe Paediatric Disorders v0.9 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.9 NR2F2 Louise Daugherty Added phenotypes Congenital heart defects, multiple types, 4, 615779 for gene: NR2F2
Severe Paediatric Disorders v0.9 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.9 NDUFAF2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Severe Paediatric Disorders v0.9 NCF2 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 for gene: NCF2
Severe Paediatric Disorders v0.9 MEF2C Louise Daugherty Added phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443 for gene: MEF2C
Severe Paediatric Disorders v0.9 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.9 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
Severe Paediatric Disorders v0.9 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.9 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 1, 135700; Fibrosis of extraocular muscles, congenital, 3B, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.9 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.9 INF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237 for gene: INF2
Severe Paediatric Disorders v0.9 IGF2 Louise Daugherty Added phenotypes Beckwith-Wiedemann Syndrome; Chromosome 11p15.5-Related Russell-Silver Syndrome for gene: IGF2
Severe Paediatric Disorders v0.9 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.9 FGF23 Louise Daugherty Added phenotypes Hypophosphatemic rickets, autosomal dominant, 193100; Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.9 F2 Louise Daugherty Added phenotypes Dysprothrombinemia, 613679; Thrombophilia due to thrombin defect, 188050; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.9 EIF2S3 Louise Daugherty Added phenotypes MEHMO syndrome, 300148 for gene: EIF2S3
Severe Paediatric Disorders v0.9 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.9 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.9 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.9 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.9 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.9 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.9 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.9 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.9 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.9 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.9 C21orf2 Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia, axial, 602271; Retinal dystrophy with macular staphyloma, 617547 for gene: C21orf2
Severe Paediatric Disorders v0.9 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.9 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.8 ZNF292 Louise Daugherty Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.8 ATPAF2 Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.8 TINF2 Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.8 TCF20 Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.8 SERPINF2 Louise Daugherty Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.8 SCARF2 Louise Daugherty Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.8 SBF2 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.8 RNF216 Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Severe Paediatric Disorders v0.8 PHF21A Louise Daugherty Added phenotypes Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability for gene: PHF21A
Severe Paediatric Disorders v0.8 PCGF2 Louise Daugherty Added phenotypes Turnpenny-Fry syndrome, 618371 for gene: PCGF2
Severe Paediatric Disorders v0.8 C4orf26 Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
Severe Paediatric Disorders v0.8 NR2F2 Louise Daugherty Added phenotypes Congenital heart defects, multiple types, 4, 615779 for gene: NR2F2
Severe Paediatric Disorders v0.8 NF2 Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
Severe Paediatric Disorders v0.8 NDUFAF2 Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Severe Paediatric Disorders v0.8 NCF2 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 for gene: NCF2
Severe Paediatric Disorders v0.8 MEF2C Louise Daugherty Added phenotypes Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 for gene: MEF2C
Severe Paediatric Disorders v0.8 KIF2A Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 for gene: KIF2A
Severe Paediatric Disorders v0.8 KIF23 Louise Daugherty Added phenotypes neonatal anemia; Congenital dyserythropoietic anemia type III for gene: KIF23
Severe Paediatric Disorders v0.8 KIF22 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 for gene: KIF22
Severe Paediatric Disorders v0.8 KIF21A Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3B, 135700; Fibrosis of extraocular muscles, congenital, 1, 135700 for gene: KIF21A
Severe Paediatric Disorders v0.8 IRF2BPL Louise Daugherty Added phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 for gene: IRF2BPL
Severe Paediatric Disorders v0.8 INF2 Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 5, 613237; Charcot-Marie-Tooth disease, dominant intermediate E, 614455 for gene: INF2
Severe Paediatric Disorders v0.8 IGF2 Louise Daugherty Added phenotypes Chromosome 11p15.5-Related Russell-Silver Syndrome; Beckwith-Wiedemann Syndrome for gene: IGF2
Severe Paediatric Disorders v0.8 GTF2H5 Louise Daugherty Added phenotypes Trichothiodystrophy 3, photosensitive, 616395 for gene: GTF2H5
Severe Paediatric Disorders v0.8 FGF23 Louise Daugherty Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Hypophosphatemic rickets, autosomal dominant, 193100; Osteomalacia, tumor-induced for gene: FGF23
Severe Paediatric Disorders v0.8 F2 Louise Daugherty Added phenotypes Thrombophilia due to thrombin defect, 188050; Dysprothrombinemia, 613679; Hypoprothrombinemia, 613679 for gene: F2
Severe Paediatric Disorders v0.8 EIF2S3 Louise Daugherty Added phenotypes MEHMO syndrome, 300148 for gene: EIF2S3
Severe Paediatric Disorders v0.8 EIF2B5 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Severe Paediatric Disorders v0.8 EIF2B4 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Severe Paediatric Disorders v0.8 EIF2B3 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Severe Paediatric Disorders v0.8 EIF2B2 Louise Daugherty Added phenotypes Ovarioleukodystrophy, 603896; Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B2
Severe Paediatric Disorders v0.8 EIF2B1 Louise Daugherty Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Severe Paediatric Disorders v0.8 EIF2AK3 Louise Daugherty Added phenotypes Wolcott-Rallison syndrome, 226980 for gene: EIF2AK3
Severe Paediatric Disorders v0.8 DPF2 Louise Daugherty Added phenotypes Coffin-Siris syndrome 7, 618027 for gene: DPF2
Severe Paediatric Disorders v0.8 CYP4F22 Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 5, 604777 for gene: CYP4F22
Severe Paediatric Disorders v0.8 CSF2RB Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 5, 614370 for gene: CSF2RB
Severe Paediatric Disorders v0.8 CSF2RA Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 4, 300770 for gene: CSF2RA
Severe Paediatric Disorders v0.8 C21orf2 Louise Daugherty Added phenotypes Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271 for gene: C21orf2
Severe Paediatric Disorders v0.8 ARFGEF2 Louise Daugherty Added phenotypes Periventricular heterotopia with microcephaly, 608097 for gene: ARFGEF2
Severe Paediatric Disorders v0.8 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.8 ZNF292 Louise Daugherty Mode of inheritance for gene ZNF292 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
Severe Paediatric Disorders v0.8 ATPAF2 Louise Daugherty Mode of inheritance for gene ATPAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
Severe Paediatric Disorders v0.8 TINF2 Louise Daugherty Mode of inheritance for gene TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
Severe Paediatric Disorders v0.8 TCF20 Louise Daugherty Mode of inheritance for gene TCF20 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
Severe Paediatric Disorders v0.8 SERPINF2 Louise Daugherty Mode of inheritance for gene SERPINF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
Severe Paediatric Disorders v0.8 SCARF2 Louise Daugherty Mode of inheritance for gene SCARF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
Severe Paediatric Disorders v0.8 SBF2 Louise Daugherty Mode of inheritance for gene SBF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
Severe Paediatric Disorders v0.7 C4orf26 Louise Daugherty commented on gene: C4orf26
Severe Paediatric Disorders v0.7 C21orf2 Louise Daugherty commented on gene: C21orf2
Severe Paediatric Disorders v0.7 ZNF292 Louise Daugherty Source Next Generation Children Project was added to ZNF292.
Severe Paediatric Disorders v0.7 ATPAF2 Louise Daugherty Source Next Generation Children Project was added to ATPAF2.
Severe Paediatric Disorders v0.7 TINF2 Louise Daugherty Source Next Generation Children Project was added to TINF2.
Severe Paediatric Disorders v0.7 TCF20 Louise Daugherty Source Next Generation Children Project was added to TCF20.
Severe Paediatric Disorders v0.7 SERPINF2 Louise Daugherty Source Next Generation Children Project was added to SERPINF2.
Severe Paediatric Disorders v0.7 SCARF2 Louise Daugherty Source Next Generation Children Project was added to SCARF2.
Severe Paediatric Disorders v0.7 SBF2 Louise Daugherty Source Next Generation Children Project was added to SBF2.
Severe Paediatric Disorders v0.7 RNF216 Louise Daugherty Source Next Generation Children Project was added to RNF216.
Severe Paediatric Disorders v0.7 PHF21A Louise Daugherty Source Next Generation Children Project was added to PHF21A.
Severe Paediatric Disorders v0.7 PCGF2 Louise Daugherty Source Next Generation Children Project was added to PCGF2.
Severe Paediatric Disorders v0.7 C4orf26 Louise Daugherty Source Next Generation Children Project was added to C4orf26.
Severe Paediatric Disorders v0.7 NR2F2 Louise Daugherty Source Next Generation Children Project was added to NR2F2.
Severe Paediatric Disorders v0.7 NF2 Louise Daugherty Source Next Generation Children Project was added to NF2.
Severe Paediatric Disorders v0.7 NDUFAF2 Louise Daugherty Source Next Generation Children Project was added to NDUFAF2.
Severe Paediatric Disorders v0.7 NCF2 Louise Daugherty Source Next Generation Children Project was added to NCF2.
Severe Paediatric Disorders v0.7 MEF2C Louise Daugherty Source Next Generation Children Project was added to MEF2C.
Severe Paediatric Disorders v0.7 KIF2A Louise Daugherty Source Next Generation Children Project was added to KIF2A.
Severe Paediatric Disorders v0.7 KIF23 Louise Daugherty Source Next Generation Children Project was added to KIF23.
Severe Paediatric Disorders v0.7 KIF22 Louise Daugherty Source Next Generation Children Project was added to KIF22.
Severe Paediatric Disorders v0.7 KIF21A Louise Daugherty Source Next Generation Children Project was added to KIF21A.
Severe Paediatric Disorders v0.7 IRF2BPL Louise Daugherty Source Next Generation Children Project was added to IRF2BPL.
Severe Paediatric Disorders v0.7 INF2 Louise Daugherty Source Next Generation Children Project was added to INF2.
Severe Paediatric Disorders v0.7 IGF2 Louise Daugherty Source Next Generation Children Project was added to IGF2.
Severe Paediatric Disorders v0.7 GTF2H5 Louise Daugherty Source Next Generation Children Project was added to GTF2H5.
Severe Paediatric Disorders v0.6 C4orf26 Louise Daugherty Tag new-gene-name tag was added to gene: C4orf26.
Severe Paediatric Disorders v0.6 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Severe Paediatric Disorders v0.7 FGF23 Louise Daugherty Source Next Generation Children Project was added to FGF23.
Severe Paediatric Disorders v0.7 F2 Louise Daugherty Source Next Generation Children Project was added to F2.
Severe Paediatric Disorders v0.7 EIF2S3 Louise Daugherty Source Next Generation Children Project was added to EIF2S3.
Severe Paediatric Disorders v0.7 EIF2B5 Louise Daugherty Source Next Generation Children Project was added to EIF2B5.
Severe Paediatric Disorders v0.7 EIF2B4 Louise Daugherty Source Next Generation Children Project was added to EIF2B4.
Severe Paediatric Disorders v0.7 EIF2B3 Louise Daugherty Source Next Generation Children Project was added to EIF2B3.
Severe Paediatric Disorders v0.7 EIF2B2 Louise Daugherty Source Next Generation Children Project was added to EIF2B2.
Severe Paediatric Disorders v0.7 EIF2B1 Louise Daugherty Source Next Generation Children Project was added to EIF2B1.
Severe Paediatric Disorders v0.7 EIF2AK3 Louise Daugherty Source Next Generation Children Project was added to EIF2AK3.
Severe Paediatric Disorders v0.7 DPF2 Louise Daugherty Source Next Generation Children Project was added to DPF2.
Severe Paediatric Disorders v0.7 CYP4F22 Louise Daugherty Source Next Generation Children Project was added to CYP4F22.
Severe Paediatric Disorders v0.7 CSF2RB Louise Daugherty Source Next Generation Children Project was added to CSF2RB.
Severe Paediatric Disorders v0.7 CSF2RA Louise Daugherty Source Next Generation Children Project was added to CSF2RA.
Severe Paediatric Disorders v0.7 C21orf2 Louise Daugherty Source Next Generation Children Project was added to C21orf2.
Severe Paediatric Disorders v0.7 ARFGEF2 Louise Daugherty Source Next Generation Children Project was added to ARFGEF2.
Severe Paediatric Disorders v0.7 AFF2 Louise Daugherty Source Next Generation Children Project was added to AFF2.
Severe Paediatric Disorders v0.5 ZNF292 Louise Daugherty Source Expert Review Amber was added to ZNF292.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 ATPAF2 Louise Daugherty Source Expert Review Amber was added to ATPAF2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 TINF2 Louise Daugherty Source Expert Review Green was added to TINF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TCF20 Louise Daugherty Source Expert Review Green was added to TCF20.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SERPINF2 Louise Daugherty Source Expert Review Green was added to SERPINF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SCARF2 Louise Daugherty Source Expert Review Green was added to SCARF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 SBF2 Louise Daugherty Source Expert Review Green was added to SBF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RNF216 Louise Daugherty Source Expert Review Green was added to RNF216.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PHF21A Louise Daugherty Source Expert Review Green was added to PHF21A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 PCGF2 Louise Daugherty Source Expert Review Green was added to PCGF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C4orf26 Louise Daugherty Source Expert Review Green was added to C4orf26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NR2F2 Louise Daugherty Source Expert Review Green was added to NR2F2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NF2 Louise Daugherty Source Expert Review Green was added to NF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NDUFAF2 Louise Daugherty Source Expert Review Green was added to NDUFAF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 NCF2 Louise Daugherty Source Expert Review Green was added to NCF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MEF2C Louise Daugherty Source Expert Review Green was added to MEF2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF2A Louise Daugherty Source Expert Review Green was added to KIF2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF23 Louise Daugherty Source Expert Review Green was added to KIF23.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF22 Louise Daugherty Source Expert Review Green was added to KIF22.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 KIF21A Louise Daugherty Source Expert Review Green was added to KIF21A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 IRF2BPL Louise Daugherty Source Expert Review Green was added to IRF2BPL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 INF2 Louise Daugherty Source Expert Review Green was added to INF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 IGF2 Louise Daugherty Source Expert Review Green was added to IGF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GTF2H5 Louise Daugherty Source Expert Review Green was added to GTF2H5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FGF23 Louise Daugherty Source Expert Review Green was added to FGF23.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 F2 Louise Daugherty Source Expert Review Green was added to F2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2S3 Louise Daugherty Source Expert Review Green was added to EIF2S3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2B5 Louise Daugherty Source Expert Review Green was added to EIF2B5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2B4 Louise Daugherty Source Expert Review Green was added to EIF2B4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2B3 Louise Daugherty Source Expert Review Green was added to EIF2B3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2B2 Louise Daugherty Source Expert Review Green was added to EIF2B2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2B1 Louise Daugherty Source Expert Review Green was added to EIF2B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 EIF2AK3 Louise Daugherty Source Expert Review Green was added to EIF2AK3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DPF2 Louise Daugherty Source Expert Review Green was added to DPF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CYP4F22 Louise Daugherty Source Expert Review Green was added to CYP4F22.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CSF2RB Louise Daugherty Source Expert Review Green was added to CSF2RB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CSF2RA Louise Daugherty Source Expert Review Green was added to CSF2RA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 C21orf2 Louise Daugherty Source Expert Review Green was added to C21orf2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ARFGEF2 Louise Daugherty Source Expert Review Green was added to ARFGEF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 AFF2 Louise Daugherty Source Expert Review Green was added to AFF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ZNF292 Louise Daugherty gene: ZNF292 was added
gene: ZNF292 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ZNF292 was set to
Severe Paediatric Disorders v0.4 ATPAF2 Louise Daugherty gene: ATPAF2 was added
gene: ATPAF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ATPAF2 was set to
Severe Paediatric Disorders v0.4 TINF2 Louise Daugherty gene: TINF2 was added
gene: TINF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TINF2 was set to
Severe Paediatric Disorders v0.4 TCF20 Louise Daugherty gene: TCF20 was added
gene: TCF20 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TCF20 was set to
Severe Paediatric Disorders v0.4 SERPINF2 Louise Daugherty gene: SERPINF2 was added
gene: SERPINF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SERPINF2 was set to
Severe Paediatric Disorders v0.4 SCARF2 Louise Daugherty gene: SCARF2 was added
gene: SCARF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SCARF2 was set to
Severe Paediatric Disorders v0.4 SBF2 Louise Daugherty gene: SBF2 was added
gene: SBF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SBF2 was set to
Severe Paediatric Disorders v0.4 RNF216 Louise Daugherty gene: RNF216 was added
gene: RNF216 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RNF216 was set to
Severe Paediatric Disorders v0.4 PHF21A Louise Daugherty gene: PHF21A was added
gene: PHF21A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PHF21A was set to
Severe Paediatric Disorders v0.4 PCGF2 Louise Daugherty gene: PCGF2 was added
gene: PCGF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PCGF2 was set to
Severe Paediatric Disorders v0.4 C4orf26 Louise Daugherty gene: C4orf26 was added
gene: C4orf26 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C4orf26 was set to
Severe Paediatric Disorders v0.4 NR2F2 Louise Daugherty gene: NR2F2 was added
gene: NR2F2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NR2F2 was set to
Severe Paediatric Disorders v0.4 NF2 Louise Daugherty gene: NF2 was added
gene: NF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NF2 was set to
Severe Paediatric Disorders v0.4 NDUFAF2 Louise Daugherty gene: NDUFAF2 was added
gene: NDUFAF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NDUFAF2 was set to
Severe Paediatric Disorders v0.4 NCF2 Louise Daugherty gene: NCF2 was added
gene: NCF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NCF2 was set to
Severe Paediatric Disorders v0.4 MEF2C Louise Daugherty gene: MEF2C was added
gene: MEF2C was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MEF2C was set to
Severe Paediatric Disorders v0.4 KIF2A Louise Daugherty gene: KIF2A was added
gene: KIF2A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF2A was set to
Severe Paediatric Disorders v0.4 KIF23 Louise Daugherty gene: KIF23 was added
gene: KIF23 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF23 was set to
Severe Paediatric Disorders v0.4 KIF22 Louise Daugherty gene: KIF22 was added
gene: KIF22 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF22 was set to
Severe Paediatric Disorders v0.4 KIF21A Louise Daugherty gene: KIF21A was added
gene: KIF21A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: KIF21A was set to
Severe Paediatric Disorders v0.4 IRF2BPL Louise Daugherty gene: IRF2BPL was added
gene: IRF2BPL was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IRF2BPL was set to
Severe Paediatric Disorders v0.4 INF2 Louise Daugherty gene: INF2 was added
gene: INF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: INF2 was set to
Severe Paediatric Disorders v0.4 IGF2 Louise Daugherty gene: IGF2 was added
gene: IGF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IGF2 was set to
Severe Paediatric Disorders v0.4 GTF2H5 Louise Daugherty gene: GTF2H5 was added
gene: GTF2H5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GTF2H5 was set to
Severe Paediatric Disorders v0.4 FGF23 Louise Daugherty gene: FGF23 was added
gene: FGF23 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FGF23 was set to
Severe Paediatric Disorders v0.4 F2 Louise Daugherty gene: F2 was added
gene: F2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: F2 was set to
Severe Paediatric Disorders v0.4 EIF2S3 Louise Daugherty gene: EIF2S3 was added
gene: EIF2S3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2S3 was set to
Severe Paediatric Disorders v0.4 EIF2B5 Louise Daugherty gene: EIF2B5 was added
gene: EIF2B5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to
Severe Paediatric Disorders v0.4 EIF2B4 Louise Daugherty gene: EIF2B4 was added
gene: EIF2B4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2B4 was set to
Severe Paediatric Disorders v0.4 EIF2B3 Louise Daugherty gene: EIF2B3 was added
gene: EIF2B3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2B3 was set to
Severe Paediatric Disorders v0.4 EIF2B2 Louise Daugherty gene: EIF2B2 was added
gene: EIF2B2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2B2 was set to
Severe Paediatric Disorders v0.4 EIF2B1 Louise Daugherty gene: EIF2B1 was added
gene: EIF2B1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2B1 was set to
Severe Paediatric Disorders v0.4 EIF2AK3 Louise Daugherty gene: EIF2AK3 was added
gene: EIF2AK3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: EIF2AK3 was set to
Severe Paediatric Disorders v0.4 DPF2 Louise Daugherty gene: DPF2 was added
gene: DPF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DPF2 was set to
Severe Paediatric Disorders v0.4 CYP4F22 Louise Daugherty gene: CYP4F22 was added
gene: CYP4F22 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CYP4F22 was set to
Severe Paediatric Disorders v0.4 CSF2RB Louise Daugherty gene: CSF2RB was added
gene: CSF2RB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CSF2RB was set to
Severe Paediatric Disorders v0.4 CSF2RA Louise Daugherty gene: CSF2RA was added
gene: CSF2RA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CSF2RA was set to
Severe Paediatric Disorders v0.4 C21orf2 Louise Daugherty gene: C21orf2 was added
gene: C21orf2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: C21orf2 was set to
Severe Paediatric Disorders v0.4 ARFGEF2 Louise Daugherty gene: ARFGEF2 was added
gene: ARFGEF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ARFGEF2 was set to
Severe Paediatric Disorders v0.4 AFF2 Louise Daugherty gene: AFF2 was added
gene: AFF2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AFF2 was set to