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Severe Paediatric Disorders v1.144 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.143 EMC1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Severe Paediatric Disorders v1.134 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from HoyeraalHreidarsson syndrome to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Severe Paediatric Disorders v1.127 DNASE2 Sarah Leigh Phenotypes for gene: DNASE2 were changed from Rheumatoid arthritis to Autoinflammatory-pancytopenia syndrome, OMIM:619858
Severe Paediatric Disorders v1.105 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Severe Paediatric Disorders v1.70 ARPC1B Arina Puzriakova Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Severe Paediatric Disorders v1.66 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Severe Paediatric Disorders v1.64 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Severe Paediatric Disorders v1.63 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia, 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Severe Paediatric Disorders v1.49 TOR1A Arina Puzriakova Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, 128100 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218; Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441
Severe Paediatric Disorders v1.47 TNNT3 Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2, 618435 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Severe Paediatric Disorders v0.17 HRAS Louise Daugherty Mode of inheritance for gene HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 HR Louise Daugherty Mode of inheritance for gene HR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GHRHR Louise Daugherty Mode of inheritance for gene GHRHR was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GHR Louise Daugherty Mode of inheritance for gene GHR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNG Louise Daugherty Mode of inheritance for gene CHRNG was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNE Louise Daugherty Mode of inheritance for gene CHRNE was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRND Louise Daugherty Mode of inheritance for gene CHRND was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNB2 Louise Daugherty Mode of inheritance for gene CHRNB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNB1 Louise Daugherty Mode of inheritance for gene CHRNB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRNA4 Louise Daugherty Mode of inheritance for gene CHRNA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNA2 Louise Daugherty Mode of inheritance for gene CHRNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 CHRNA1 Louise Daugherty Mode of inheritance for gene CHRNA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 CHRDL1 Louise Daugherty Mode of inheritance for gene CHRDL1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 CFHR5 Louise Daugherty Mode of inheritance for gene CFHR5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 CFHR4 Louise Daugherty reviewed gene: CFHR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR3 Louise Daugherty reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR2 Louise Daugherty reviewed gene: CFHR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR1 Louise Daugherty reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 VARS Louise Daugherty edited their review of gene: VARS: 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: VARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 TSHR Louise Daugherty reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 THRB Louise Daugherty reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 THRA Louise Daugherty reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TMEM173 Louise Daugherty edited their review of gene: TMEM173: 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: TMEM173; Recommended initial gene rating: Green List (high evidence); Phenotypes: STING-associated vasculopathy, infantile-onset, 615934 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 SEPT9 Louise Daugherty edited their review of gene: SEPT9: 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: SEPTIN9; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophy, hereditary neuralgic, 162100 (3) | Leukemia, acute myeloid, therapy-related (1) | Ovarian carcinoma (1); Mode of inheritance: Autosomal dominant | ND | ND; Changed rating: AMBER
Severe Paediatric Disorders v0.12 TMEM5 Louise Daugherty edited their review of gene: TMEM5: 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: TMEM5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 RARS Louise Daugherty edited their review of gene: RARS: 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: RARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 9, 616140 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 QARS Louise Daugherty edited their review of gene: QARS: 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: QARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DFNB59 Louise Daugherty edited their review of gene: DFNB59: 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: PJVK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal recessive 59, 610220 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C2orf71 Louise Daugherty edited their review of gene: C2orf71: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PCARE; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinitis pigmentosa 54, 613428 (3); Mode of inheritance: ND; Changed rating: AMBER
Severe Paediatric Disorders v0.12 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 MUT Louise Daugherty edited their review of gene: MUT: 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: MMUT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Methylmalonic aciduria, mut(0) type, 251000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C19orf70 Louise Daugherty edited their review of gene: C19orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MICOS13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KIF1BP Louise Daugherty edited their review of gene: KIF1BP: 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: KIFBP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Goldberg-Shprintzen megacolon syndrome, 609460 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KARS Louise Daugherty edited their review of gene: KARS: 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: KARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) | Deafness, autosomal recessive 89, 613916 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 IARS Louise Daugherty edited their review of gene: IARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HR Louise Daugherty reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HFE2 Louise Daugherty edited their review of gene: HFE2: 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: HJV; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HIST1H1E Louise Daugherty edited their review of gene: HIST1H1E: 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: H1-4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rahman syndrome, 617537 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DFNA5 Louise Daugherty edited their review of gene: DFNA5: 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: GSDME; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 5, 600994 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GHRHR Louise Daugherty reviewed gene: GHRHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GHR Louise Daugherty reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GARS Louise Daugherty edited their review of gene: GARS: 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: GARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 EPRS Louise Daugherty edited their review of gene: EPRS: 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: EPRS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 15, 617951 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DARS Louise Daugherty edited their review of gene: DARS: 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: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ISPD Louise Daugherty edited their review of gene: ISPD: 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: CRPPA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
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 APOPT1 Louise Daugherty edited their review of gene: APOPT1: 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: COA8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: Autosomal recessive, Mitochondrial; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ICK Louise Daugherty edited their review of gene: ICK: 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: CILK1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Endocrine-cerebroosteodysplasia, 612651 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CHRNG Louise Daugherty reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNE Louise Daugherty reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRND Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNB2 Louise Daugherty reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNB1 Louise Daugherty reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA4 Louise Daugherty reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA2 Louise Daugherty reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA1 Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRDL1 Louise Daugherty reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR5 Louise Daugherty reviewed gene: CFHR5: 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 C11orf70 Louise Daugherty edited their review of gene: C11orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 38, 618063 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 COL4A3BP Louise Daugherty edited their review of gene: COL4A3BP: 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: CERT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal dominant 34, 616351 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 FAM58A Louise Daugherty edited their review of gene: FAM58A: 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: CCNQ; Recommended initial gene rating: Green List (high evidence); Phenotypes: STAR syndrome, 300707 (3); Mode of inheritance: X-linked dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 WISP3 Louise Daugherty edited their review of gene: WISP3: 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: CCN6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) | Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GIF Louise Daugherty edited their review of gene: GIF: 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: CBLIF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intrinsic factor deficiency, 261000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CARS Louise Daugherty edited their review of gene: CARS: 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: CARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nail; Mode of inheritance: ; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ATP5D Louise Daugherty edited their review of gene: ATP5D: 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: ATP5F1D; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ARSE Louise Daugherty edited their review of gene: ARSE: 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: ARSL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia punctata, X-linked recessive, 302950 (3); Mode of inheritance: X-linked recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ADPRHL2 Louise Daugherty edited their review of gene: ADPRHL2: 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: ADPRS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 AARS Louise Daugherty edited their review of gene: AARS: 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: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 CFHR4 Louise Daugherty Publications for gene CFHR4 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR3 Louise Daugherty Publications for gene CFHR3 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR2 Louise Daugherty Publications for gene CFHR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR1 Louise Daugherty Publications for gene CFHR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSHR Louise Daugherty Publications for gene TSHR were updated from to 30847515
Severe Paediatric Disorders v0.11 THRB Louise Daugherty Publications for gene THRB were updated from to 30847515
Severe Paediatric Disorders v0.11 THRA Louise Daugherty Publications for gene THRA were updated from to 30847515
Severe Paediatric Disorders v0.11 HRAS Louise Daugherty Publications for gene HRAS were updated from to 30847515
Severe Paediatric Disorders v0.11 HR Louise Daugherty Publications for gene HR were updated from to 30847515
Severe Paediatric Disorders v0.11 GHRHR Louise Daugherty Publications for gene GHRHR were updated from to 30847515
Severe Paediatric Disorders v0.11 GHR Louise Daugherty Publications for gene GHR were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNG Louise Daugherty Publications for gene CHRNG were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNE Louise Daugherty Publications for gene CHRNE were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRND Louise Daugherty Publications for gene CHRND were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNB2 Louise Daugherty Publications for gene CHRNB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNB1 Louise Daugherty Publications for gene CHRNB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNA4 Louise Daugherty Publications for gene CHRNA4 were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNA2 Louise Daugherty Publications for gene CHRNA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRNA1 Louise Daugherty Publications for gene CHRNA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CHRDL1 Louise Daugherty Publications for gene CHRDL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR5 Louise Daugherty Publications for gene CFHR5 were updated from to 30847515
Severe Paediatric Disorders v0.10 MEN1 Louise Daugherty Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.10 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.10 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
Severe Paediatric Disorders v0.10 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.10 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.10 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.10 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.10 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.10 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
Severe Paediatric Disorders v0.10 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.10 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.10 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.10 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.10 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.10 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.10 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.10 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.10 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.10 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.10 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.10 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.10 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.10 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.10 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.10 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.10 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.10 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.10 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.10 TNS2 Louise Daugherty Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.10 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.10 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.10 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.10 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.10 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.10 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.10 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.10 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.10 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.10 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.10 SRD5A3 Louise Daugherty Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.10 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.10 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.10 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.10 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.10 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.10 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.10 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.10 SGPL1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.10 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.10 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.10 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.10 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
Severe Paediatric Disorders v0.10 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.10 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.10 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.10 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.10 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.10 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.10 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.10 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.10 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.10 PLCE1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 3, 610725 for gene: PLCE1
Severe Paediatric Disorders v0.10 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.10 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.10 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.10 NUP93 Louise Daugherty Added phenotypes Nephrotic syndrome, type 12, 616892 for gene: NUP93
Severe Paediatric Disorders v0.10 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.10 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.10 NPHS2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 2, 600995 for gene: NPHS2
Severe Paediatric Disorders v0.10 NPHS1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 1, 256300 for gene: NPHS1
Severe Paediatric Disorders v0.10 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.10 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.10 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.10 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
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 NCF1 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 for gene: NCF1
Severe Paediatric Disorders v0.10 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.10 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.10 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.10 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.10 MT-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.10 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.10 MT-CO2 Louise Daugherty Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
Severe Paediatric Disorders v0.10 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.10 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.10 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.10 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.10 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
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 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.10 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.10 MAGI2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 15, 617609 for gene: MAGI2
Severe Paediatric Disorders v0.10 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.10 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.10 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
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 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.10 ITSN2 Louise Daugherty Added phenotypes Nephrotic syndrome for gene: ITSN2
Severe Paediatric Disorders v0.10 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.10 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.10 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.10 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.10 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
Severe Paediatric Disorders v0.10 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.10 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.10 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.10 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.10 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.10 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.10 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.10 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.10 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.10 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.10 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.10 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.10 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.10 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.10 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
Severe Paediatric Disorders v0.10 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.10 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.10 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.10 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.10 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.10 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
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 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.10 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.10 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.10 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.10 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.10 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.10 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.10 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.10 CYBA Louise Daugherty Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 for gene: CYBA
Severe Paediatric Disorders v0.10 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.10 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.10 COQ8B Louise Daugherty Added phenotypes Nephrotic syndrome, type 9, 615573 for gene: COQ8B
Severe Paediatric Disorders v0.10 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.10 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.10 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.10 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.10 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.10 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.10 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.10 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.10 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.10 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.10 CHRNB2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 for gene: CHRNB2
Severe Paediatric Disorders v0.10 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.10 CHRNA4 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 for gene: CHRNA4
Severe Paediatric Disorders v0.10 CHRNA2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 for gene: CHRNA2
Severe Paediatric Disorders v0.10 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.10 CHRDL1 Louise Daugherty Added phenotypes Megalocornea 1, X-linked, 309300 for gene: CHRDL1
Severe Paediatric Disorders v0.10 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.10 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.10 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.10 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.10 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.10 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.10 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.10 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.10 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.10 ASXL1 Louise Daugherty Added phenotypes Bohring-Opitz syndrome, 605039 for gene: ASXL1
Severe Paediatric Disorders v0.10 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.10 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.10 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.10 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.10 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.10 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.10 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.10 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.10 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.10 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.9 MEN1 Louise Daugherty Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
Severe Paediatric Disorders v0.9 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.9 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.9 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.9 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.9 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.9 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
Severe Paediatric Disorders v0.9 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.9 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.9 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.9 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.9 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.9 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.9 TNS2 Louise Daugherty Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.9 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.9 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.9 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.9 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.9 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.9 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.9 SRD5A3 Louise Daugherty Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.9 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.9 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.9 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.9 SGPL1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.9 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.9 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
Severe Paediatric Disorders v0.9 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.9 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.9 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.9 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.9 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.9 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.9 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 PLCE1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 3, 610725 for gene: PLCE1
Severe Paediatric Disorders v0.9 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.9 NUP93 Louise Daugherty Added phenotypes Nephrotic syndrome, type 12, 616892 for gene: NUP93
Severe Paediatric Disorders v0.9 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.9 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.9 NPHS2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 2, 600995 for gene: NPHS2
Severe Paediatric Disorders v0.9 NPHS1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 1, 256300 for gene: NPHS1
Severe Paediatric Disorders v0.9 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
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 NCF1 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 for gene: NCF1
Severe Paediatric Disorders v0.9 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 MT-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.9 MT-CO2 Louise Daugherty Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
Severe Paediatric Disorders v0.9 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.9 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
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 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.9 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.9 MAGI2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 15, 617609 for gene: MAGI2
Severe Paediatric Disorders v0.9 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.9 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
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 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.9 ITSN2 Louise Daugherty Added phenotypes Nephrotic syndrome for gene: ITSN2
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.9 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
Severe Paediatric Disorders v0.9 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.9 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.9 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.9 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.9 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.9 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.9 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
Severe Paediatric Disorders v0.9 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.9 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
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 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.9 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.9 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.9 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.9 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.9 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.9 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.9 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.9 CYBA Louise Daugherty Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 for gene: CYBA
Severe Paediatric Disorders v0.9 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.9 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.9 COQ8B Louise Daugherty Added phenotypes Nephrotic syndrome, type 9, 615573 for gene: COQ8B
Severe Paediatric Disorders v0.9 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.9 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.9 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.9 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.9 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 for gene: CHRNB2
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 CHRNA4 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 for gene: CHRNA4
Severe Paediatric Disorders v0.9 CHRNA2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 for gene: CHRNA2
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 CHRDL1 Louise Daugherty Added phenotypes Megalocornea 1, X-linked, 309300 for gene: CHRDL1
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.9 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.9 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.9 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.9 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.9 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.9 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.9 ASXL1 Louise Daugherty Added phenotypes Bohring-Opitz syndrome, 605039 for gene: ASXL1
Severe Paediatric Disorders v0.9 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.9 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.9 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.9 MEN1 Louise Daugherty Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.9 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.9 IL22 Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
Severe Paediatric Disorders v0.9 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.9 CFHR4 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.9 CFHR2 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.9 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.9 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.9 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
Severe Paediatric Disorders v0.9 WT1 Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.9 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 WAS Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.9 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.9 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.9 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.9 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.9 UROD Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.9 UMOD Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.9 TWIST1 Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TSHR Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.9 TRPV4 Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.9 TRPM4 Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.9 TRNT1 Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.9 TPM2 Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.9 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.9 TNS2 Louise Daugherty Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.9 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.9 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.9 TMEM67 Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.9 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.9 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.9 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.9 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.9 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.9 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.9 SYNE1 Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.9 SRD5A3 Louise Daugherty Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.9 SRC Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.9 SMAD4 Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.9 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.9 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.9 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.9 SLC16A1 Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.9 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.9 SGPL1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.9 SEC23B Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.9 SCO2 Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
Severe Paediatric Disorders v0.9 REN Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
Severe Paediatric Disorders v0.9 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.9 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.9 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
Severe Paediatric Disorders v0.9 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.9 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.9 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.9 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.9 POR Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
Severe Paediatric Disorders v0.9 PLCE1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 3, 610725 for gene: PLCE1
Severe Paediatric Disorders v0.9 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.9 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
Severe Paediatric Disorders v0.9 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.9 NUP93 Louise Daugherty Added phenotypes Nephrotic syndrome, type 12, 616892 for gene: NUP93
Severe Paediatric Disorders v0.9 NUP107 Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.9 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.9 NPHS2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 2, 600995 for gene: NPHS2
Severe Paediatric Disorders v0.9 NPHS1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 1, 256300 for gene: NPHS1
Severe Paediatric Disorders v0.9 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.9 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
Severe Paediatric Disorders v0.9 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
Severe Paediatric Disorders v0.9 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
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 NCF1 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 for gene: NCF1
Severe Paediatric Disorders v0.9 MYH9 Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
Severe Paediatric Disorders v0.9 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
Severe Paediatric Disorders v0.9 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.9 MT-TY Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.9 MT-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
Severe Paediatric Disorders v0.9 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
Severe Paediatric Disorders v0.9 MT-CO2 Louise Daugherty Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
Severe Paediatric Disorders v0.9 MT-CO1 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
Severe Paediatric Disorders v0.9 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.9 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.9 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.9 MMP13 Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
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 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.9 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.9 MAGI2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 15, 617609 for gene: MAGI2
Severe Paediatric Disorders v0.9 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.9 LAMB2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 for gene: LAMB2
Severe Paediatric Disorders v0.9 KLF1 Louise Daugherty Added phenotypes Blood group--Lutheran inhibitor, 111150; Dyserythropoietic anemia, congenital, type IV, 613673 for gene: KLF1
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 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.9 ITSN2 Louise Daugherty Added phenotypes Nephrotic syndrome for gene: ITSN2
Severe Paediatric Disorders v0.9 ITGB3 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.9 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.9 ITGA2B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Thrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.9 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.9 HRAS Louise Daugherty Added phenotypes Congenital myopathy with excess of muscle spindles, 218040; Costello syndrome, 218040 for gene: HRAS
Severe Paediatric Disorders v0.9 HR Louise Daugherty Added phenotypes Alopecia universalis, 203655; Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 for gene: HR
Severe Paediatric Disorders v0.9 HPGD Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Cranioosteoarthropathy, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.9 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.9 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000 for gene: HMBS
Severe Paediatric Disorders v0.9 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.9 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.9 HBB Louise Daugherty Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB
Severe Paediatric Disorders v0.9 HBA2 Louise Daugherty Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2
Severe Paediatric Disorders v0.9 HBA1 Louise Daugherty Added phenotypes Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Methemoglobinemia, alpha type, 617973 for gene: HBA1
Severe Paediatric Disorders v0.9 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.9 GLE1 Louise Daugherty Added phenotypes Congenital arthrogryposis with anterior horn cell disease, 611890; Lethal congenital contracture syndrome 1, 253310 for gene: GLE1
Severe Paediatric Disorders v0.9 GJB3 Louise Daugherty Added phenotypes Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3, 220290; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal dominant 2B, 612644 for gene: GJB3
Severe Paediatric Disorders v0.9 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal recessive 1A, 220290; Keratoderma, palmoplantar, with deafness, 148350; Vohwinkel syndrome, 124500; Deafness, autosomal dominant 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210 for gene: GJB2
Severe Paediatric Disorders v0.9 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1
Severe Paediatric Disorders v0.9 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
Severe Paediatric Disorders v0.9 GHR Louise Daugherty Added phenotypes Growth hormone insensitivity, partial, 604271; Increased responsiveness to growth hormone, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.9 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Thrombocytopenia with beta-thalassemia, X-linked, 314050 for gene: GATA1
Severe Paediatric Disorders v0.9 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.9 FGFR2 Louise Daugherty Added phenotypes Apert syndrome, 101200; Saethre-Chotzen syndrome, 101400; Beare-Stevenson cutis gyrata syndrome, 123790; Pfeiffer syndrome, 101600; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Crouzon syndrome, 123500; Scaphocephaly and Axenfeld-Rieger anomaly; Craniofacial-skeletal-dermatologic dysplasia, 101600; Bent bone dysplasia syndrome, 614592; Craniosynostosis, nonspecific; LADD syndrome, 149730; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Jackson-Weiss syndrome, 123150 for gene: FGFR2
Severe Paediatric Disorders v0.9 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.9 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
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 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.9 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.9 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.9 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.9 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.9 DCDC2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 66, 610212; Sclerosing cholangitis, neonatal, 617394; Nephronophthisis 19, 616217 for gene: DCDC2
Severe Paediatric Disorders v0.9 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.9 CYBB Louise Daugherty Added phenotypes Immunodeficiency 34, mycobacteriosis, X-linked, 300645; Chronic granulomatous disease, X-linked, 306400 for gene: CYBB
Severe Paediatric Disorders v0.9 CYBA Louise Daugherty Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 for gene: CYBA
Severe Paediatric Disorders v0.9 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, nephropathic, 219800 for gene: CTNS
Severe Paediatric Disorders v0.9 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.9 COQ8B Louise Daugherty Added phenotypes Nephrotic syndrome, type 9, 615573 for gene: COQ8B
Severe Paediatric Disorders v0.9 COL4A1 Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1
Severe Paediatric Disorders v0.9 COL2A1 Louise Daugherty Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Severe Paediatric Disorders v0.9 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type II, 166210; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A2
Severe Paediatric Disorders v0.9 COL1A1 Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1
Severe Paediatric Disorders v0.9 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.9 CNGB3 Louise Daugherty Added phenotypes Achromatopsia 3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3
Severe Paediatric Disorders v0.9 CLCN5 Louise Daugherty Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5
Severe Paediatric Disorders v0.9 CHRNG Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 for gene: CHRNG
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 for gene: CHRNB2
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 CHRNA4 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 for gene: CHRNA4
Severe Paediatric Disorders v0.9 CHRNA2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 for gene: CHRNA2
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 CHRDL1 Louise Daugherty Added phenotypes Megalocornea 1, X-linked, 309300 for gene: CHRDL1
Severe Paediatric Disorders v0.9 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.9 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.9 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.9 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.9 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.9 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.9 CBS Louise Daugherty Added phenotypes Thrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200 for gene: CBS
Severe Paediatric Disorders v0.9 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.9 AVPR2 Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2
Severe Paediatric Disorders v0.9 ASXL1 Louise Daugherty Added phenotypes Bohring-Opitz syndrome, 605039 for gene: ASXL1
Severe Paediatric Disorders v0.9 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.9 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.9 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.9 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.9 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010; Dyschromatosis symmetrica hereditaria, 127400 for gene: ADAR
Severe Paediatric Disorders v0.9 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 ABL1 Louise Daugherty Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602; Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 for gene: ABL1
Severe Paediatric Disorders v0.8 MEN1 Louise Daugherty Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 IL22 Louise Daugherty Added phenotypes Arthritis; Immunodeficiency 5 for gene: IL22
Severe Paediatric Disorders v0.8 IL17A Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Rheumatoid arthritis, progression of}, 180300; {Graft-versus-host disease, protection against}, 614395 for gene: IL17A
Severe Paediatric Disorders v0.8 CFHR4 Louise Daugherty Added phenotypes {Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 for gene: CFHR4
Severe Paediatric Disorders v0.8 CFHR2 Louise Daugherty Added phenotypes {Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 for gene: CFHR2
Severe Paediatric Disorders v0.8 CFHR1 Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.8 NCF4 Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.8 GFI1 Louise Daugherty Added phenotypes ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1
Severe Paediatric Disorders v0.8 WT1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 4, 256370; Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978 for gene: WT1
Severe Paediatric Disorders v0.8 WNT7A Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 4, 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Senior-Loken syndrome 8, 616307; Nephronophthisis 13, 614377 for gene: WDR19
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Added phenotypes Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, intermittent, 313900; Thrombocytopenia, X-linked, 313900; Neutropenia, severe congenital, X-linked, 300299 for gene: WAS
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 VHL Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; Pheochromocytoma, 171300; von Hippel-Lindau syndrome, 193300 for gene: VHL
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Added phenotypes Porphyria, hepatoerythropoietic, 176100; Porphyria cutanea tarda, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 UMOD Louise Daugherty Added phenotypes Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000; Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 for gene: UMOD
Severe Paediatric Disorders v0.8 TWIST1 Louise Daugherty Added phenotypes Sweeney-Cox syndrome, 617746; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Craniosynostosis 1, 123100; Robinow-Sorauf syndrome, 180750 for gene: TWIST1
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.8 TSHR Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 1, 275200; Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373 for gene: TSHR
Severe Paediatric Disorders v0.8 TRPV4 Louise Daugherty Added phenotypes ?Avascular necrosis of femoral head, primary, 2, 617383; Digital arthropathy-brachydactyly, familial, 606835; Brachyolmia type 3, 113500; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; SED, Maroteaux type, 184095; Scapuloperoneal spinal muscular atrophy, 181405; Parastremmatic dwarfism, 168400; Hereditary motor and sensory neuropathy, type IIc, 606071; [Sodium serum level QTL 1], 613508; Metatropic dysplasia, 156530; Spondylometaphyseal dysplasia, Kozlowski type, 184252 for gene: TRPV4
Severe Paediatric Disorders v0.8 TRPM4 Louise Daugherty Added phenotypes Progressive familial heart block, type IB, 604559; Erythrokeratodermia veriabilis et progressiva 6, 618531 for gene: TRPM4
Severe Paediatric Disorders v0.8 TRNT1 Louise Daugherty Added phenotypes Retinitis pigmentosa and erythrocytic microcytosis, 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 for gene: TRNT1
Severe Paediatric Disorders v0.8 TPM2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1A, 108120; CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285 for gene: TPM2
Severe Paediatric Disorders v0.8 TOP3A Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.8 TNS2 Louise Daugherty Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.8 TNNT3 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.8 TNNI2 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.8 TMEM67 Louise Daugherty Added phenotypes ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550; Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361 for gene: TMEM67
Severe Paediatric Disorders v0.8 TIMM8A Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.8 THRB Louise Daugherty Added phenotypes Thyroid hormone resistance, autosomal recessive, 274300; Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650 for gene: THRB
Severe Paediatric Disorders v0.8 THRA Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.8 THPO Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.8 THBD Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.8 TFR2 Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.8 SYNE1 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, myogenic type, 618484; Spinocerebellar ataxia, autosomal recessive 8, 610743; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.8 SRD5A3 Louise Daugherty Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.8 SRC Louise Daugherty Added phenotypes ?Thrombocytopenia 6, 616937; Colon cancer, advanced, somatic, 114500 for gene: SRC
Severe Paediatric Disorders v0.8 SMAD4 Louise Daugherty Added phenotypes Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4
Severe Paediatric Disorders v0.8 SLCO2A1 Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC40A1 Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.8 SLC16A1 Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 7, 610021; Erythrocyte lactate transporter defect, 245340; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.8 SLC11A2 Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.8 SGPL1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.8 SEC23B Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type II, 224100; ?Cowden syndrome 7, 616858 for gene: SEC23B
Severe Paediatric Disorders v0.8 SDHD Louise Daugherty Added phenotypes Pheochromocytoma, 171300; Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHD
Severe Paediatric Disorders v0.8 SDHB Louise Daugherty Added phenotypes Paragangliomas 4, 115310; Pheochromocytoma, 171300; Gastrointestinal stromal tumor, 606764; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB
Severe Paediatric Disorders v0.8 SCO2 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908 for gene: SCO2
Severe Paediatric Disorders v0.8 REN Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430; Hyperuricemic nephropathy, familial juvenile 2, 613092 for gene: REN
Severe Paediatric Disorders v0.8 RBM8A Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Severe Paediatric Disorders v0.8 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.8 PSAP Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Krabbe disease, atypical, 611722; Gaucher disease, atypical, 610539; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP
Severe Paediatric Disorders v0.8 PROS1 Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
Severe Paediatric Disorders v0.8 PROC Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
Severe Paediatric Disorders v0.8 PRG4 Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
Severe Paediatric Disorders v0.8 PPP3CA Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
Severe Paediatric Disorders v0.8 POR Louise Daugherty Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 for gene: POR
Severe Paediatric Disorders v0.8 PLCE1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 3, 610725 for gene: PLCE1
Severe Paediatric Disorders v0.8 PKLR Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
Severe Paediatric Disorders v0.8 PIEZO2 Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, with impaired proprioception and touch, 617146; Arthrogryposis, distal, type 5, 108145 for gene: PIEZO2
Severe Paediatric Disorders v0.8 OPA1 Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Behr syndrome, 210000; Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250 for gene: OPA1
Severe Paediatric Disorders v0.8 NUP93 Louise Daugherty Added phenotypes Nephrotic syndrome, type 12, 616892 for gene: NUP93
Severe Paediatric Disorders v0.8 NUP107 Louise Daugherty Added phenotypes ?Ovarian dysgenesis 6, 618078; Nephrotic syndrome, type 11, 616730; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
Severe Paediatric Disorders v0.8 NSMCE3 Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
Severe Paediatric Disorders v0.8 NPHS2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 2, 600995 for gene: NPHS2
Severe Paediatric Disorders v0.8 NPHS1 Louise Daugherty Added phenotypes Nephrotic syndrome, type 1, 256300 for gene: NPHS1
Severe Paediatric Disorders v0.8 NPHP4 Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
Severe Paediatric Disorders v0.8 NPHP3 Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis 3, 604387 for gene: NPHP3
Severe Paediatric Disorders v0.8 NPHP1 Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Joubert syndrome 4, 609583; Senior-Loken syndrome-1, 266900 for gene: NPHP1
Severe Paediatric Disorders v0.8 NEK8 Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
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 NCF1 Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 for gene: NCF1
Severe Paediatric Disorders v0.8 MYH9 Louise Daugherty Added phenotypes Deafness, autosomal dominant 17, 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 for gene: MYH9
Severe Paediatric Disorders v0.8 MYH3 Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 for gene: MYH3
Severe Paediatric Disorders v0.8 MYBPC1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
Severe Paediatric Disorders v0.8 MT-TY Louise Daugherty Added phenotypes EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC; FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC for gene: MT-TY
Severe Paediatric Disorders v0.8 MT-TS1 Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; MERRF/MELAS OVERLAP SYNDROME; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS for gene: MT-TS1
Severe Paediatric Disorders v0.8 MT-TF Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; NEPHROPATHY, TUBULOINTERSTITIAL; MELAS SYNDROME; MERRF SYNDROME; EPILEPSY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL for gene: MT-TF
Severe Paediatric Disorders v0.8 MT-CO2 Louise Daugherty Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
Severe Paediatric Disorders v0.8 MT-CO1 Louise Daugherty Added phenotypes SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; CYTOCHROME c OXIDASE I DEFICIENCY; CYTOCHROME c OXIDASE DEFICIENCY; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT for gene: MT-CO1
Severe Paediatric Disorders v0.8 MPL Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
Severe Paediatric Disorders v0.8 MPIG6B Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
Severe Paediatric Disorders v0.8 MMP2 Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
Severe Paediatric Disorders v0.8 MMP13 Louise Daugherty Added phenotypes Metaphyseal anadysplasia 1, 602111; Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400 for gene: MMP13
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 MECOM Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
Severe Paediatric Disorders v0.8 MAPKBP1 Louise Daugherty Added phenotypes Nephronophthisis 20, 617271 for gene: MAPKBP1
Severe Paediatric Disorders v0.8 MAGI2 Louise Daugherty Added phenotypes Nephrotic syndrome, type 15, 617609 for gene: MAGI2
Severe Paediatric Disorders v0.8 LGI4 Louise Daugherty Added phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 for gene: LGI4
Severe Paediatric Disorders v0.8 LAMB2 Louise Daugherty Added phenotypes Pierson syndrome, 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 for gene: LAMB2
Severe Paediatric Disorders v0.8 KLF1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Blood group--Lutheran inhibitor, 111150 for gene: KLF1
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 KDSR Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
Severe Paediatric Disorders v0.8 ITSN2 Louise Daugherty Added phenotypes Nephrotic syndrome for gene: ITSN2
Severe Paediatric Disorders v0.8 ITGB3 Louise Daugherty Added phenotypes Purpura, posttransfusion; Thrombocytopenia, neonatal alloimmune; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGB3
Severe Paediatric Disorders v0.8 ITGA3 Louise Daugherty Added phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 for gene: ITGA3
Severe Paediatric Disorders v0.8 ITGA2B Louise Daugherty Added phenotypes Thrombocytopenia, neonatal alloimmune, BAK antigen related; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800; Glanzmann thrombasthenia, 273800 for gene: ITGA2B
Severe Paediatric Disorders v0.8 INVS Louise Daugherty Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS
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 HSD17B3 Louise Daugherty Added phenotypes Pseudohermaphroditism, male, with gynecomastia, 264300 for gene: HSD17B3
Severe Paediatric Disorders v0.8 HRAS Louise Daugherty Added phenotypes Costello syndrome, 218040; Congenital myopathy with excess of muscle spindles, 218040 for gene: HRAS
Severe Paediatric Disorders v0.8 HR Louise Daugherty Added phenotypes Hypotrichosis 4, 146550; Alopecia universalis, 203655; Atrichia with papular lesions, 209500 for gene: HR
Severe Paediatric Disorders v0.8 HPGD Louise Daugherty Added phenotypes Cranioosteoarthropathy, 259100; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100; Digital clubbing, isolated congenital, 119900 for gene: HPGD
Severe Paediatric Disorders v0.8 HOXA11 Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 for gene: HOXA11
Severe Paediatric Disorders v0.8 HMBS Louise Daugherty Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 for gene: HMBS
Severe Paediatric Disorders v0.8 HFE2 Louise Daugherty Added phenotypes Hemochromatosis, type 2A, 602390 for gene: HFE2
Severe Paediatric Disorders v0.8 HFE Louise Daugherty Added phenotypes Hemochromatosis, 235200 for gene: HFE
Severe Paediatric Disorders v0.8 HBB Louise Daugherty Added phenotypes Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia, 141749; Thalassemia, beta, 613985; Erythrocytosis 6, 617980; Sickle cell anemia, 603903; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Hereditary persistence of fetal hemoglobin, 141749 for gene: HBB
Severe Paediatric Disorders v0.8 HBA2 Louise Daugherty Added phenotypes Thalassemia, alpha-, 604131; Hemoglobin H disease, deletional and nondeletional, 613978; Heinz body anemia, 140700; Erythrocytosis 7, 617981 for gene: HBA2
Severe Paediatric Disorders v0.8 HBA1 Louise Daugherty Added phenotypes Heinz body anemias, alpha-, 140700; Methemoglobinemia, alpha type, 617973; Erythrocytosis, 7, 617981; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
Severe Paediatric Disorders v0.8 HAMP Louise Daugherty Added phenotypes Hemochromatosis, type 2B, 613313 for gene: HAMP
Severe Paediatric Disorders v0.8 GLE1 Louise Daugherty Added phenotypes Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890 for gene: GLE1
Severe Paediatric Disorders v0.8 GJB3 Louise Daugherty Added phenotypes Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness, autosomal recessive; Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal dominant 2B, 612644; Deafness, digenic, GJB2/GJB3, 220290 for gene: GJB3
Severe Paediatric Disorders v0.8 GJB2 Louise Daugherty Added phenotypes Deafness, autosomal dominant 3A, 601544; Keratoderma, palmoplantar, with deafness, 148350; Keratitis-ichthyosis-deafness syndrome, 148210; Deafness, autosomal recessive 1A, 220290; Vohwinkel syndrome, 124500; Bart-Pumphrey syndrome, 149200; Hystrix-like ichthyosis with deafness, 602540 for gene: GJB2
Severe Paediatric Disorders v0.8 GJA1 Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200; Palmoplantar keratoderma with congenital alopecia, 104100; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400 for gene: GJA1
Severe Paediatric Disorders v0.8 GHRHR Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IV, 618157 for gene: GHRHR
Severe Paediatric Disorders v0.8 GHR Louise Daugherty Added phenotypes Increased responsiveness to growth hormone, 604271; Growth hormone insensitivity, partial, 604271; Laron dwarfism, 262500 for gene: GHR
Severe Paediatric Disorders v0.8 GATA1 Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Thrombocytopenia with beta-thalassemia, X-linked, 314050; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Severe Paediatric Disorders v0.8 FYB1 Louise Daugherty Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1
Severe Paediatric Disorders v0.8 FGFR2 Louise Daugherty Added phenotypes Jackson-Weiss syndrome, 123150; Beare-Stevenson cutis gyrata syndrome, 123790; Craniosynostosis, nonspecific; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Saethre-Chotzen syndrome, 101400; Crouzon syndrome, 123500; LADD syndrome, 149730; Bent bone dysplasia syndrome, 614592; Scaphocephaly, maxillary retrusion, and mental retardation, 609579; Pfeiffer syndrome, 101600; Apert syndrome, 101200; Craniofacial-skeletal-dermatologic dysplasia, 101600; Scaphocephaly and Axenfeld-Rieger anomaly for gene: FGFR2
Severe Paediatric Disorders v0.8 FECH Louise Daugherty Added phenotypes Protoporphyria, erythropoietic, 1, 177000 for gene: FECH
Severe Paediatric Disorders v0.8 F9 Louise Daugherty Added phenotypes Thrombophilia, X-linked, due to factor IX defect, 300807; Hemophilia B, 306900 for gene: F9
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 ETV6 Louise Daugherty Added phenotypes Thrombocytopenia 5, 616216 for gene: ETV6
Severe Paediatric Disorders v0.8 ECEL1 Louise Daugherty Added phenotypes Arthrogryposis, distal, type 5D, 615065 for gene: ECEL1
Severe Paediatric Disorders v0.8 DNASE2 Louise Daugherty Added phenotypes Rheumatoid arthritis for gene: DNASE2
Severe Paediatric Disorders v0.8 DGKE Louise Daugherty Added phenotypes Nephrotic syndrome, type 7, 615008 for gene: DGKE
Severe Paediatric Disorders v0.8 DCLRE1B Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B
Severe Paediatric Disorders v0.8 DCDC2 Louise Daugherty Added phenotypes Nephronophthisis 19, 616217; Sclerosing cholangitis, neonatal, 617394; ?Deafness, autosomal recessive 66, 610212 for gene: DCDC2
Severe Paediatric Disorders v0.8 CYCS Louise Daugherty Added phenotypes Thrombocytopenia 4, 612004 for gene: CYCS
Severe Paediatric Disorders v0.8 CYBB Louise Daugherty Added phenotypes Chronic granulomatous disease, X-linked, 306400; Immunodeficiency 34, mycobacteriosis, X-linked, 300645 for gene: CYBB
Severe Paediatric Disorders v0.8 CYBA Louise Daugherty Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 for gene: CYBA
Severe Paediatric Disorders v0.8 CTNS Louise Daugherty Added phenotypes Cystinosis, atypical nephropathic, 219800; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, nephropathic, 219800; Cystinosis, ocular nonnephropathic, 219750 for gene: CTNS
Severe Paediatric Disorders v0.8 COX15 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 for gene: COX15
Severe Paediatric Disorders v0.8 COQ8B Louise Daugherty Added phenotypes Nephrotic syndrome, type 9, 615573 for gene: COQ8B
Severe Paediatric Disorders v0.8 COL4A1 Louise Daugherty Added phenotypes ?Retinal arteries, tortuosity of, 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 for gene: COL4A1
Severe Paediatric Disorders v0.8 COL2A1 Louise Daugherty Added phenotypes Platyspondylic skeletal dysplasia, Torrance type, 151210; Stickler syndrome, type I, 108300; Spondyloperipheral dysplasia, 271700; Osteoarthritis with mild chondrodysplasia, 604864; Kniest dysplasia, 156550; SMED Strudwick type, 184250; Czech dysplasia, 609162; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Vitreoretinopathy with phalangeal epiphyseal dysplasia; SED congenita, 183900; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Avascular necrosis of the femoral head, 608805; Achondrogenesis, type II or hypochondrogenesis, 200610; Stickler sydrome, type I, nonsyndromic ocular, 609508 for gene: COL2A1
Severe Paediatric Disorders v0.8 COL1A2 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Osteogenesis imperfecta, type III, 259420 for gene: COL1A2
Severe Paediatric Disorders v0.8 COL1A1 Louise Daugherty Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Caffey disease, 114000 for gene: COL1A1
Severe Paediatric Disorders v0.8 COA6 Louise Daugherty Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 for gene: COA6
Severe Paediatric Disorders v0.8 CNGB3 Louise Daugherty Added phenotypes Macular degeneration, juvenile, 248200; Achromatopsia 3, 262300 for gene: CNGB3
Severe Paediatric Disorders v0.8 CLCN5 Louise Daugherty Added phenotypes Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Dent disease, 300009; Nephrolithiasis, type I, 310468 for gene: CLCN5
Severe Paediatric Disorders v0.8 CHRNG Louise Daugherty Added phenotypes Escobar syndrome, 265000; Multiple pterygium syndrome, lethal type, 253290 for gene: CHRNG
Severe Paediatric Disorders v0.8 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 for gene: CHRNE
Severe Paediatric Disorders v0.8 CHRND Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.8 CHRNB2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 for gene: CHRNB2
Severe Paediatric Disorders v0.8 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.8 CHRNA4 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 for gene: CHRNA4
Severe Paediatric Disorders v0.8 CHRNA2 Louise Daugherty Added phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 for gene: CHRNA2
Severe Paediatric Disorders v0.8 CHRNA1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Multiple pterygium syndrome, lethal type, 253290 for gene: CHRNA1
Severe Paediatric Disorders v0.8 CHRDL1 Louise Daugherty Added phenotypes Megalocornea 1, X-linked, 309300 for gene: CHRDL1
Severe Paediatric Disorders v0.8 CFHR5 Louise Daugherty Added phenotypes Nephropathy due to CFHR5 deficiency, 614809 for gene: CFHR5
Severe Paediatric Disorders v0.8 CEP83 Louise Daugherty Added phenotypes Nephronophthisis 18, 615862 for gene: CEP83
Severe Paediatric Disorders v0.8 CEP164 Louise Daugherty Added phenotypes Nephronophthisis 15, 614845 for gene: CEP164
Severe Paediatric Disorders v0.8 CDAN1 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Severe Paediatric Disorders v0.8 CD55 Louise Daugherty Added phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 for gene: CD55
Severe Paediatric Disorders v0.8 WISP3 Louise Daugherty Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 for gene: WISP3
Severe Paediatric Disorders v0.8 CBS Louise Daugherty Added phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200 for gene: CBS
Severe Paediatric Disorders v0.8 C15orf41 Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
Severe Paediatric Disorders v0.8 AVPR2 Louise Daugherty Added phenotypes Diabetes insipidus, nephrogenic, 304800; Nephrogenic syndrome of inappropriate antidiuresis, 300539 for gene: AVPR2
Severe Paediatric Disorders v0.8 ASXL1 Louise Daugherty Added phenotypes Bohring-Opitz syndrome, 605039 for gene: ASXL1
Severe Paediatric Disorders v0.8 ARSA Louise Daugherty Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Severe Paediatric Disorders v0.8 ARHGDIA Louise Daugherty Added phenotypes Nephrotic syndrome, type 8, 615244 for gene: ARHGDIA
Severe Paediatric Disorders v0.8 ANKS6 Louise Daugherty Added phenotypes Nephronophthisis 16, 615382 for gene: ANKS6
Severe Paediatric Disorders v0.8 ANKRD26 Louise Daugherty Added phenotypes Thrombocytopenia 2, 188000 for gene: ANKRD26
Severe Paediatric Disorders v0.8 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.8 ALAS2 Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751; Protoporphyria, erythropoietic, X-linked, 300752 for gene: ALAS2
Severe Paediatric Disorders v0.8 ADAR Louise Daugherty Added phenotypes Dyschromatosis symmetrica hereditaria, 127400; Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Severe Paediatric Disorders v0.8 ADAMTS13 Louise Daugherty Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
Severe Paediatric Disorders v0.8 ACAN Louise Daugherty Added phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.8 ABL1 Louise Daugherty Added phenotypes Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232; Congenital heart defects and skeletal malformations syndrome, 617602 for gene: ABL1
Severe Paediatric Disorders v0.8 MEN1 Louise Daugherty Mode of inheritance for gene MEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
Severe Paediatric Disorders v0.8 ITGAM Louise Daugherty Mode of inheritance for gene ITGAM was changed from to Unknown
Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
Severe Paediatric Disorders v0.8 IL22 Louise Daugherty Mode of inheritance for gene IL22 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
Severe Paediatric Disorders v0.8 IL17A Louise Daugherty Mode of inheritance for gene IL17A was changed from to Unknown
Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
Severe Paediatric Disorders v0.8 CFHR4 Louise Daugherty Mode of inheritance for gene CFHR4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
Severe Paediatric Disorders v0.8 CFHR3 Louise Daugherty Mode of inheritance for gene CFHR3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.8 CFHR2 Louise Daugherty Mode of inheritance for gene CFHR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
Severe Paediatric Disorders v0.8 CFHR1 Louise Daugherty Mode of inheritance for gene CFHR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
Severe Paediatric Disorders v0.8 NCF4 Louise Daugherty Mode of inheritance for gene NCF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
Severe Paediatric Disorders v0.8 GFI1 Louise Daugherty Mode of inheritance for gene GFI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
Severe Paediatric Disorders v0.8 WT1 Louise Daugherty Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
Severe Paediatric Disorders v0.8 WNT7A Louise Daugherty Mode of inheritance for gene WNT7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Mode of inheritance for gene WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.8 WAS Louise Daugherty Mode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
Severe Paediatric Disorders v0.8 VPS33B Louise Daugherty Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
Severe Paediatric Disorders v0.8 VIPAS39 Louise Daugherty Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Severe Paediatric Disorders v0.8 VHL Louise Daugherty Mode of inheritance for gene VHL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Severe Paediatric Disorders v0.8 UROS Louise Daugherty Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
Severe Paediatric Disorders v0.8 UROD Louise Daugherty Mode of inheritance for gene UROD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
Severe Paediatric Disorders v0.8 UMOD Louise Daugherty Mode of inheritance for gene UMOD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
Severe Paediatric Disorders v0.8 TWIST1 Louise Daugherty Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TTC21B Louise Daugherty Mode of inheritance for gene TTC21B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.8 TSHR Louise Daugherty Mode of inheritance for gene TSHR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
Severe Paediatric Disorders v0.8 TRPV4 Louise Daugherty Mode of inheritance for gene TRPV4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
Severe Paediatric Disorders v0.8 TRPM4 Louise Daugherty Mode of inheritance for gene TRPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
Severe Paediatric Disorders v0.8 TRNT1 Louise Daugherty Mode of inheritance for gene TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
Severe Paediatric Disorders v0.8 TPM2 Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
Severe Paediatric Disorders v0.8 TOP3A Louise Daugherty Mode of inheritance for gene TOP3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
Severe Paediatric Disorders v0.8 TNS2 Louise Daugherty Mode of inheritance for gene TNS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes nephrotic syndrome for gene: TNS2
Severe Paediatric Disorders v0.8 TNNT3 Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
Severe Paediatric Disorders v0.8 TNNI2 Louise Daugherty Mode of inheritance for gene TNNI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
Severe Paediatric Disorders v0.8 TMEM67 Louise Daugherty Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
Severe Paediatric Disorders v0.8 TIMM8A Louise Daugherty Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Severe Paediatric Disorders v0.8 THRB Louise Daugherty Mode of inheritance for gene THRB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
Severe Paediatric Disorders v0.8 THRA Louise Daugherty Mode of inheritance for gene THRA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
Severe Paediatric Disorders v0.8 THPO Louise Daugherty Mode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
Severe Paediatric Disorders v0.8 THBD Louise Daugherty Mode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
Severe Paediatric Disorders v0.8 TFR2 Louise Daugherty Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
Severe Paediatric Disorders v0.8 SYNE1 Louise Daugherty Mode of inheritance for gene SYNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
Severe Paediatric Disorders v0.8 SRD5A3 Louise Daugherty Mode of inheritance for gene SRD5A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
Severe Paediatric Disorders v0.8 SRC Louise Daugherty Mode of inheritance for gene SRC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
Severe Paediatric Disorders v0.8 SMAD4 Louise Daugherty Mode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
Severe Paediatric Disorders v0.8 SLCO2A1 Louise Daugherty Mode of inheritance for gene SLCO2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
Severe Paediatric Disorders v0.8 SLC9A6 Louise Daugherty Mode of inheritance for gene SLC9A6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
Severe Paediatric Disorders v0.8 SLC40A1 Louise Daugherty Mode of inheritance for gene SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
Severe Paediatric Disorders v0.8 SLC16A1 Louise Daugherty Mode of inheritance for gene SLC16A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
Severe Paediatric Disorders v0.8 SLC11A2 Louise Daugherty Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Severe Paediatric Disorders v0.8 SGPL1 Louise Daugherty Mode of inheritance for gene SGPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
Severe Paediatric Disorders v0.8 SEC23B Louise Daugherty Mode of inheritance for gene SEC23B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
Severe Paediatric Disorders v0.8 SDHD Louise Daugherty Mode of inheritance for gene SDHD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.8 SDHB Louise Daugherty Mode of inheritance for gene SDHB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.8 SCO2 Louise Daugherty Mode of inheritance for gene SCO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
Severe Paediatric Disorders v0.7 CFHR4 Louise Daugherty Source Next Generation Children Project was added to CFHR4.
Severe Paediatric Disorders v0.7 CFHR3 Louise Daugherty Source Next Generation Children Project was added to CFHR3.
Severe Paediatric Disorders v0.7 CFHR2 Louise Daugherty Source Next Generation Children Project was added to CFHR2.
Severe Paediatric Disorders v0.7 CFHR1 Louise Daugherty Source Next Generation Children Project was added to CFHR1.
Severe Paediatric Disorders v0.7 TSHR Louise Daugherty Source Next Generation Children Project was added to TSHR.
Severe Paediatric Disorders v0.7 THRB Louise Daugherty Source Next Generation Children Project was added to THRB.
Severe Paediatric Disorders v0.7 THRA Louise Daugherty Source Next Generation Children Project was added to THRA.
Severe Paediatric Disorders v0.7 HRAS Louise Daugherty Source Next Generation Children Project was added to HRAS.
Severe Paediatric Disorders v0.7 HR Louise Daugherty Source Next Generation Children Project was added to HR.
Severe Paediatric Disorders v0.7 GHRHR Louise Daugherty Source Next Generation Children Project was added to GHRHR.
Severe Paediatric Disorders v0.7 GHR Louise Daugherty Source Next Generation Children Project was added to GHR.
Severe Paediatric Disorders v0.7 CHRNG Louise Daugherty Source Next Generation Children Project was added to CHRNG.
Severe Paediatric Disorders v0.7 CHRNE Louise Daugherty Source Next Generation Children Project was added to CHRNE.
Severe Paediatric Disorders v0.7 CHRND Louise Daugherty Source Next Generation Children Project was added to CHRND.
Severe Paediatric Disorders v0.7 CHRNB2 Louise Daugherty Source Next Generation Children Project was added to CHRNB2.
Severe Paediatric Disorders v0.7 CHRNB1 Louise Daugherty Source Next Generation Children Project was added to CHRNB1.
Severe Paediatric Disorders v0.7 CHRNA4 Louise Daugherty Source Next Generation Children Project was added to CHRNA4.
Severe Paediatric Disorders v0.7 CHRNA2 Louise Daugherty Source Next Generation Children Project was added to CHRNA2.
Severe Paediatric Disorders v0.7 CHRNA1 Louise Daugherty Source Next Generation Children Project was added to CHRNA1.
Severe Paediatric Disorders v0.7 CHRDL1 Louise Daugherty Source Next Generation Children Project was added to CHRDL1.
Severe Paediatric Disorders v0.7 CFHR5 Louise Daugherty Source Next Generation Children Project was added to CFHR5.
Severe Paediatric Disorders v0.5 CFHR4 Louise Daugherty Source Expert Review Red was added to CFHR4.
Severe Paediatric Disorders v0.5 CFHR3 Louise Daugherty Source Expert Review Red was added to CFHR3.
Severe Paediatric Disorders v0.5 CFHR2 Louise Daugherty Source Expert Review Red was added to CFHR2.
Severe Paediatric Disorders v0.5 CFHR1 Louise Daugherty Source Expert Review Red was added to CFHR1.
Severe Paediatric Disorders v0.5 TSHR Louise Daugherty Source Expert Review Green was added to TSHR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 THRB Louise Daugherty Source Expert Review Green was added to THRB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 THRA Louise Daugherty Source Expert Review Green was added to THRA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HRAS Louise Daugherty Source Expert Review Green was added to HRAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HR Louise Daugherty Source Expert Review Green was added to HR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GHRHR Louise Daugherty Source Expert Review Green was added to GHRHR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GHR Louise Daugherty Source Expert Review Green was added to GHR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNG Louise Daugherty Source Expert Review Green was added to CHRNG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNE Louise Daugherty Source Expert Review Green was added to CHRNE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRND Louise Daugherty Source Expert Review Green was added to CHRND.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNB2 Louise Daugherty Source Expert Review Green was added to CHRNB2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNB1 Louise Daugherty Source Expert Review Green was added to CHRNB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNA4 Louise Daugherty Source Expert Review Green was added to CHRNA4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNA2 Louise Daugherty Source Expert Review Green was added to CHRNA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRNA1 Louise Daugherty Source Expert Review Green was added to CHRNA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CHRDL1 Louise Daugherty Source Expert Review Green was added to CHRDL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 CFHR5 Louise Daugherty Source Expert Review Green was added to CFHR5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CFHR4 Louise Daugherty gene: CFHR4 was added
gene: CFHR4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR4 was set to
Severe Paediatric Disorders v0.4 CFHR3 Louise Daugherty gene: CFHR3 was added
gene: CFHR3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR3 was set to
Severe Paediatric Disorders v0.4 CFHR2 Louise Daugherty gene: CFHR2 was added
gene: CFHR2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR2 was set to
Severe Paediatric Disorders v0.4 CFHR1 Louise Daugherty gene: CFHR1 was added
gene: CFHR1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR1 was set to
Severe Paediatric Disorders v0.4 TSHR Louise Daugherty gene: TSHR was added
gene: TSHR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TSHR was set to
Severe Paediatric Disorders v0.4 THRB Louise Daugherty gene: THRB was added
gene: THRB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: THRB was set to
Severe Paediatric Disorders v0.4 THRA Louise Daugherty gene: THRA was added
gene: THRA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: THRA was set to
Severe Paediatric Disorders v0.4 HRAS Louise Daugherty gene: HRAS was added
gene: HRAS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HRAS was set to
Severe Paediatric Disorders v0.4 HR Louise Daugherty gene: HR was added
gene: HR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HR was set to
Severe Paediatric Disorders v0.4 GHRHR Louise Daugherty gene: GHRHR was added
gene: GHRHR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GHRHR was set to
Severe Paediatric Disorders v0.4 GHR Louise Daugherty gene: GHR was added
gene: GHR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GHR was set to
Severe Paediatric Disorders v0.4 CHRNG Louise Daugherty gene: CHRNG was added
gene: CHRNG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNG was set to
Severe Paediatric Disorders v0.4 CHRNE Louise Daugherty gene: CHRNE was added
gene: CHRNE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to
Severe Paediatric Disorders v0.4 CHRND Louise Daugherty gene: CHRND was added
gene: CHRND was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRND was set to
Severe Paediatric Disorders v0.4 CHRNB2 Louise Daugherty gene: CHRNB2 was added
gene: CHRNB2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNB2 was set to
Severe Paediatric Disorders v0.4 CHRNB1 Louise Daugherty gene: CHRNB1 was added
gene: CHRNB1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNB1 was set to
Severe Paediatric Disorders v0.4 CHRNA4 Louise Daugherty gene: CHRNA4 was added
gene: CHRNA4 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNA4 was set to
Severe Paediatric Disorders v0.4 CHRNA2 Louise Daugherty gene: CHRNA2 was added
gene: CHRNA2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNA2 was set to
Severe Paediatric Disorders v0.4 CHRNA1 Louise Daugherty gene: CHRNA1 was added
gene: CHRNA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRNA1 was set to
Severe Paediatric Disorders v0.4 CHRDL1 Louise Daugherty gene: CHRDL1 was added
gene: CHRDL1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CHRDL1 was set to
Severe Paediatric Disorders v0.4 CFHR5 Louise Daugherty gene: CFHR5 was added
gene: CFHR5 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CFHR5 was set to