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Severe Paediatric Disorders v1.159 DCC Ataf Sabir changed review comment from: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract; to: could we consider upgrading this gene to green and add to gms available genes in light of emerging literature

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61952
https://www.biorxiv.org/content/10.1101/2022.10.13.511954v1.abstract

in relation to the condition HGPPS2 (See OMIM)
there was only 1 report before, but evidence building now
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 v1.141 STXBP1 Sarah Leigh edited their review of gene: STXBP1: Added comment: PMID: 31855252 reports a homozygous STXBP1 variant (NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)) in two sisters with developmental and epileptic encephalopathy 4 (OMIM:612164). Their mother and unaffected sister were heterozygous for NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)(the father was deceased). Functional studies showed that this variant had a lesser effect on protein stability in comparison with the heterozygous variants previously reported. However, patch clamp recordings demonstrated that p.Leu446Phe causes a 2-fold increase in evoked synaptic transmission, leading to the conclusion that this variant was having a gain-of-function effect. Although the majority of STXBP1 variants are heterozygous, with a loss-of -function effect, the results published in PMID: 31855252, suggest that there maybe further complexity to mechanisms involved in the development of developmental and epileptic encephalopathy 4. PMID: 35190816 used a computational approach, together with biomedical ontologies, to characterize phenotypic features in STXBP1-related disorders, such that groups of HPO terms could be associated with certain STXBP1 variants.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v1.103 PLCG2 Arina Puzriakova Phenotypes for gene: PLCG2 were changed from Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468
Severe Paediatric Disorders v1.86 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2, 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Severe Paediatric Disorders v1.76 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
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 v1.56 MEIS2 Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation, 600987 to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
Severe Paediatric Disorders v1.45 TENM3 Arina Puzriakova Phenotypes for gene: TENM3 were changed from ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 to Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145; Microphthalmia, isolated, with coloboma 9, MONDO:0014059
Severe Paediatric Disorders v1.30 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Severe Paediatric Disorders v1.28 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Severe Paediatric Disorders v1.21 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Severe Paediatric Disorders v1.11 HNRNPH1 Arina Puzriakova Phenotypes for gene: HNRNPH1 were changed from Mental retardation, X-linked, syndromic, Bain type, 300986 to HNRNPH1-related neurodevelopmental disorder
Severe Paediatric Disorders v1.6 QRSL1 Eleanor Williams Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835
Severe Paediatric Disorders v0.17 MECP2 Louise Daugherty Mode of inheritance for gene MECP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 LAT Louise Daugherty Mode of inheritance for gene LAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 LAMP2 Louise Daugherty Mode of inheritance for gene LAMP2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 KDM6A Louise Daugherty Mode of inheritance for gene KDM6A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 IQSEC2 Louise Daugherty Mode of inheritance for gene IQSEC2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HUWE1 Louise Daugherty Mode of inheritance for gene HUWE1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HSD17B10 Louise Daugherty Mode of inheritance for gene HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HNRNPH2 Louise Daugherty Mode of inheritance for gene HNRNPH2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HDAC8 Louise Daugherty Mode of inheritance for gene HDAC8 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 HCCS Louise Daugherty Mode of inheritance for gene HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GPR143 Louise Daugherty Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GLA Louise Daugherty Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GJB1 Louise Daugherty Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 GDI1 Louise Daugherty Mode of inheritance for gene GDI1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 G6PD Louise Daugherty Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FRMPD4 Louise Daugherty Mode of inheritance for gene FRMPD4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FRMD7 Louise Daugherty Mode of inheritance for gene FRMD7 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FMR1 Louise Daugherty Mode of inheritance for gene FMR1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FLNA Louise Daugherty Mode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FHL1 Louise Daugherty Mode of inheritance for gene FHL1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EFNB1 Louise Daugherty Mode of inheritance for gene EFNB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EDA Louise Daugherty Mode of inheritance for gene EDA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 EBP Louise Daugherty Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DLAT Louise Daugherty Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 DDX3X Louise Daugherty Mode of inheritance for gene DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 DCX Louise Daugherty Mode of inheritance for gene DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 COX7B Louise Daugherty Mode of inheritance for gene COX7B was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 COL4A5 Louise Daugherty Mode of inheritance for gene COL4A5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CNKSR2 Louise Daugherty Mode of inheritance for gene CNKSR2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CLCN4 Louise Daugherty Mode of inheritance for gene CLCN4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CHM Louise Daugherty Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CDKL5 Louise Daugherty Mode of inheritance for gene CDKL5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 FAM58A Louise Daugherty Mode of inheritance for gene FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 CASK Louise Daugherty Mode of inheritance for gene CASK was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 BCOR Louise Daugherty Mode of inheritance for gene BCOR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ATRX Louise Daugherty Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 AMER1 Louise Daugherty Mode of inheritance for gene AMER1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 AMELX Louise Daugherty Mode of inheritance for gene AMELX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ALG13 Louise Daugherty Mode of inheritance for gene ALG13 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.17 ACSL4 Louise Daugherty Mode of inheritance for gene ACSL4 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.12 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 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 LAT Louise Daugherty reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 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 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 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 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 LAT Louise Daugherty Publications for gene LAT were updated from to 30847515
Severe Paediatric Disorders v0.11 DLAT Louise Daugherty Publications for gene DLAT were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS6KA3 Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 RLIM Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PLS3 Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PHEX Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PDHA1 Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NSDHL Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NONO Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NLGN3 Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NHS Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NEXMIF Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 NAA10 Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.11 MSL3 Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.10 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 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.10 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.10 PTCHD1 Louise Daugherty Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.10 MRPL44 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.10 DDOST Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.10 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.10 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
Severe Paediatric Disorders v0.10 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.10 VARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.10 TUFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
Severe Paediatric Disorders v0.10 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.10 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.10 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.10 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.10 TSFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.10 TRMT5 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.10 TRMT10C Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.10 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.10 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.10 TMEM165 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.10 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.10 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.10 TBXA2R Louise Daugherty Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.10 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.10 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.10 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.10 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.10 SSR4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
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 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.10 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.10 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.10 SLFN14 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Severe Paediatric Disorders v0.10 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.10 SLC39A8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.10 SLC35C1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.10 SLC35A2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.10 SLC35A1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.10 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.10 SLC25A26 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
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 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.10 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.10 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.10 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.10 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.10 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.10 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.10 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.10 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.10 RPSA Louise Daugherty Added phenotypes Asplenia, isolated congenital, 271400 for gene: RPSA
Severe Paediatric Disorders v0.10 RMND1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 for gene: RMND1
Severe Paediatric Disorders v0.10 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.10 RFT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type In, 612015 for gene: RFT1
Severe Paediatric Disorders v0.10 RET Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: RET
Severe Paediatric Disorders v0.10 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.10 RASGRP2 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 18, 615888 for gene: RASGRP2
Severe Paediatric Disorders v0.10 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.10 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.10 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Severe Paediatric Disorders v0.10 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.10 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.10 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.10 PMM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 for gene: PMM2
Severe Paediatric Disorders v0.10 PLCG2 Louise Daugherty Added phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 for gene: PLCG2
Severe Paediatric Disorders v0.10 PLAU Louise Daugherty Added phenotypes Quebec platelet disorder, 601709 for gene: PLAU
Severe Paediatric Disorders v0.10 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.10 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.10 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
Severe Paediatric Disorders v0.10 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.10 PGM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type It, 614921 for gene: PGM1
Severe Paediatric Disorders v0.10 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.10 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.10 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.10 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.10 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.10 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.10 P2RY12 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 8, 609821 for gene: P2RY12
Severe Paediatric Disorders v0.10 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
Severe Paediatric Disorders v0.10 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.10 NGLY1 Louise Daugherty Added phenotypes Congenital disorder of deglycosylation, 615273 for gene: NGLY1
Severe Paediatric Disorders v0.10 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.10 NDUFA4 Louise Daugherty Added phenotypes Isolated complex IV deficiency for gene: NDUFA4
Severe Paediatric Disorders v0.10 NBEAL2 Louise Daugherty Added phenotypes Gray platelet syndrome, 139090 for gene: NBEAL2
Severe Paediatric Disorders v0.10 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.10 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.10 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
Severe Paediatric Disorders v0.10 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.10 MTO1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702 for gene: MTO1
Severe Paediatric Disorders v0.10 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
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-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.10 MT-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.10 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.10 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.10 MRPS34 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34
Severe Paediatric Disorders v0.10 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.10 MRPS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 36, 617950 for gene: MRPS2
Severe Paediatric Disorders v0.10 MRPL3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Severe Paediatric Disorders v0.10 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.10 MPDU1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type If, 609180 for gene: MPDU1
Severe Paediatric Disorders v0.10 MOGS Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIb, 606056 for gene: MOGS
Severe Paediatric Disorders v0.10 MIPEP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 31, 617228 for gene: MIPEP
Severe Paediatric Disorders v0.10 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.10 MGAT2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIa, 212066 for gene: MGAT2
Severe Paediatric Disorders v0.10 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.10 MEIS2 Louise Daugherty Added phenotypes Cleft palate, cardiac defects, and mental retardation, 600987 for gene: MEIS2
Severe Paediatric Disorders v0.10 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.10 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.10 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.10 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.10 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
Severe Paediatric Disorders v0.10 LAT Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Severe Paediatric Disorders v0.10 KDM1A Louise Daugherty Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 for gene: KDM1A
Severe Paediatric Disorders v0.10 KCNQ1 Louise Daugherty Added phenotypes Long QT syndrome 1, 192500; Short QT syndrome 2, 609621; Atrial fibrillation, familial, 3, 607554; Jervell and Lange-Nielsen syndrome, 220400 for gene: KCNQ1
Severe Paediatric Disorders v0.10 KCNJ2 Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2
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 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 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.10 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
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 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322; HPRT-related gout, 300323 for gene: HPRT1
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 GTPBP3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 23, 616198 for gene: GTPBP3
Severe Paediatric Disorders v0.10 GP6 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 11, 614201 for gene: GP6
Severe Paediatric Disorders v0.10 GP1BB Louise Daugherty Added phenotypes Giant platelet disorder, isolated, 231200; Bernard-Soulier syndrome, type B, 231200 for gene: GP1BB
Severe Paediatric Disorders v0.10 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.10 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.10 GFM2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 39, 618397 for gene: GFM2
Severe Paediatric Disorders v0.10 GFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 for gene: GFM1
Severe Paediatric Disorders v0.10 GFI1B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 17, 187900 for gene: GFI1B
Severe Paediatric Disorders v0.10 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.10 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
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 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
Severe Paediatric Disorders v0.10 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.10 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.10 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.10 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.10 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.10 FLI1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1
Severe Paediatric Disorders v0.10 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.10 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.10 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
Severe Paediatric Disorders v0.10 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.10 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.10 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.10 ELAC2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2
Severe Paediatric Disorders v0.10 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Severe Paediatric Disorders v0.10 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.10 DPM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iu, 615042 for gene: DPM2
Severe Paediatric Disorders v0.10 DPM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ie, 608799 for gene: DPM1
Severe Paediatric Disorders v0.10 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
Severe Paediatric Disorders v0.10 DOLK Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Im, 610768 for gene: DOLK
Severe Paediatric Disorders v0.10 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.10 DLAT Louise Daugherty Added phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Severe Paediatric Disorders v0.10 DHFR Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Severe Paediatric Disorders v0.10 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.10 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.10 CYP17A1 Louise Daugherty Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, 202110; 17,20-lyase deficiency, isolated, 202110 for gene: CYP17A1
Severe Paediatric Disorders v0.10 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.10 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
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 COG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIh, 611182 for gene: COG8
Severe Paediatric Disorders v0.10 COG7 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIe, 608779 for gene: COG7
Severe Paediatric Disorders v0.10 COG6 Louise Daugherty Added phenotypes Shaheen syndrome, 615328; Congenital disorder of glycosylation, type IIl, 614576 for gene: COG6
Severe Paediatric Disorders v0.10 COG5 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIi, 613612 for gene: COG5
Severe Paediatric Disorders v0.10 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.10 COG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIg, 611209 for gene: COG1
Severe Paediatric Disorders v0.10 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.10 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.10 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.10 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.10 CCDC115 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIo, 616828 for gene: CCDC115
Severe Paediatric Disorders v0.10 CARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2
Severe Paediatric Disorders v0.10 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.10 C1QBP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 33, 617713 for gene: C1QBP
Severe Paediatric Disorders v0.10 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.10 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.10 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.10 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.10 B4GALT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IId, 607091 for gene: B4GALT1
Severe Paediatric Disorders v0.10 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.10 APOA5 Louise Daugherty Added phenotypes Hyperchylomicronemia, late-onset, 144650 for gene: APOA5
Severe Paediatric Disorders v0.10 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.10 ALG9 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210 for gene: ALG9
Severe Paediatric Disorders v0.10 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.10 ALG6 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 for gene: ALG6
Severe Paediatric Disorders v0.10 ALG3 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Id, 601110 for gene: ALG3
Severe Paediatric Disorders v0.10 ALG12 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ig, 607143 for gene: ALG12
Severe Paediatric Disorders v0.10 ALG11 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ip, 613661 for gene: ALG11
Severe Paediatric Disorders v0.10 ALG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 for gene: ALG1
Severe Paediatric Disorders v0.10 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.10 AK1 Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Severe Paediatric Disorders v0.10 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1
Severe Paediatric Disorders v0.10 ADGRG1 Louise Daugherty Added phenotypes Polymicrogyria, bilateral perisylvian, 615752; Polymicrogyria, bilateral frontoparietal, 606854 for gene: ADGRG1
Severe Paediatric Disorders v0.10 ACTN1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 15, 615193 for gene: ACTN1
Severe Paediatric Disorders v0.10 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.10 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.10 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.10 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.10 ABCA4 Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4
Severe Paediatric Disorders v0.10 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
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 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 PTCHD1 Louise Daugherty Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.9 MRPL44 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.9 DDOST Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.9 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.9 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 VARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.9 TUFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.9 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 TSFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.9 TRMT5 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.9 TRMT10C Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.9 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 TMEM165 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.9 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.9 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.9 TBXA2R Louise Daugherty Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.9 SSR4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
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 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.9 SLFN14 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Severe Paediatric Disorders v0.9 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.9 SLC39A8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.9 SLC35C1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.9 SLC35A2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.9 SLC35A1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.9 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.9 SLC25A26 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
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 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.9 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.9 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.9 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.9 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.9 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.9 RPSA Louise Daugherty Added phenotypes Asplenia, isolated congenital, 271400 for gene: RPSA
Severe Paediatric Disorders v0.9 RMND1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 for gene: RMND1
Severe Paediatric Disorders v0.9 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.9 RFT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type In, 612015 for gene: RFT1
Severe Paediatric Disorders v0.9 RET Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: RET
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 RASGRP2 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 18, 615888 for gene: RASGRP2
Severe Paediatric Disorders v0.9 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Severe Paediatric Disorders v0.9 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.9 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PMM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 for gene: PMM2
Severe Paediatric Disorders v0.9 PLCG2 Louise Daugherty Added phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 for gene: PLCG2
Severe Paediatric Disorders v0.9 PLAU Louise Daugherty Added phenotypes Quebec platelet disorder, 601709 for gene: PLAU
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.9 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
Severe Paediatric Disorders v0.9 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 PGM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type It, 614921 for gene: PGM1
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.9 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.9 P2RY12 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 8, 609821 for gene: P2RY12
Severe Paediatric Disorders v0.9 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NGLY1 Louise Daugherty Added phenotypes Congenital disorder of deglycosylation, 615273 for gene: NGLY1
Severe Paediatric Disorders v0.9 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.9 NDUFA4 Louise Daugherty Added phenotypes Isolated complex IV deficiency for gene: NDUFA4
Severe Paediatric Disorders v0.9 NBEAL2 Louise Daugherty Added phenotypes Gray platelet syndrome, 139090 for gene: NBEAL2
Severe Paediatric Disorders v0.9 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.9 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.9 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
Severe Paediatric Disorders v0.9 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.9 MTO1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702 for gene: MTO1
Severe Paediatric Disorders v0.9 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
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-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.9 MT-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.9 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.9 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.9 MRPS34 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34
Severe Paediatric Disorders v0.9 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.9 MRPS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 36, 617950 for gene: MRPS2
Severe Paediatric Disorders v0.9 MRPL3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Severe Paediatric Disorders v0.9 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.9 MPDU1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type If, 609180 for gene: MPDU1
Severe Paediatric Disorders v0.9 MOGS Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIb, 606056 for gene: MOGS
Severe Paediatric Disorders v0.9 MIPEP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 31, 617228 for gene: MIPEP
Severe Paediatric Disorders v0.9 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.9 MGAT2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIa, 212066 for gene: MGAT2
Severe Paediatric Disorders v0.9 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.9 MEIS2 Louise Daugherty Added phenotypes Cleft palate, cardiac defects, and mental retardation, 600987 for gene: MEIS2
Severe Paediatric Disorders v0.9 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
Severe Paediatric Disorders v0.9 LAT Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Severe Paediatric Disorders v0.9 KDM1A Louise Daugherty Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 for gene: KDM1A
Severe Paediatric Disorders v0.9 KCNQ1 Louise Daugherty Added phenotypes Long QT syndrome 1, 192500; Short QT syndrome 2, 609621; Atrial fibrillation, familial, 3, 607554; Jervell and Lange-Nielsen syndrome, 220400 for gene: KCNQ1
Severe Paediatric Disorders v0.9 KCNJ2 Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2
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 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 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.9 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
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 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322; HPRT-related gout, 300323 for gene: HPRT1
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 GTPBP3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 23, 616198 for gene: GTPBP3
Severe Paediatric Disorders v0.9 GP6 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 11, 614201 for gene: GP6
Severe Paediatric Disorders v0.9 GP1BB Louise Daugherty Added phenotypes Giant platelet disorder, isolated, 231200; Bernard-Soulier syndrome, type B, 231200 for gene: GP1BB
Severe Paediatric Disorders v0.9 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.9 GFM2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 39, 618397 for gene: GFM2
Severe Paediatric Disorders v0.9 GFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 for gene: GFM1
Severe Paediatric Disorders v0.9 GFI1B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 17, 187900 for gene: GFI1B
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
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 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.9 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.9 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.9 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.9 FLI1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1
Severe Paediatric Disorders v0.9 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
Severe Paediatric Disorders v0.9 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.9 ELAC2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2
Severe Paediatric Disorders v0.9 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DPM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iu, 615042 for gene: DPM2
Severe Paediatric Disorders v0.9 DPM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ie, 608799 for gene: DPM1
Severe Paediatric Disorders v0.9 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
Severe Paediatric Disorders v0.9 DOLK Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Im, 610768 for gene: DOLK
Severe Paediatric Disorders v0.9 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.9 DLAT Louise Daugherty Added phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Severe Paediatric Disorders v0.9 DHFR Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Severe Paediatric Disorders v0.9 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.9 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 CYP17A1 Louise Daugherty Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, 202110; 17,20-lyase deficiency, isolated, 202110 for gene: CYP17A1
Severe Paediatric Disorders v0.9 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.9 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
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 COG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIh, 611182 for gene: COG8
Severe Paediatric Disorders v0.9 COG7 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIe, 608779 for gene: COG7
Severe Paediatric Disorders v0.9 COG6 Louise Daugherty Added phenotypes Shaheen syndrome, 615328; Congenital disorder of glycosylation, type IIl, 614576 for gene: COG6
Severe Paediatric Disorders v0.9 COG5 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIi, 613612 for gene: COG5
Severe Paediatric Disorders v0.9 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.9 COG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIg, 611209 for gene: COG1
Severe Paediatric Disorders v0.9 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.9 CCDC115 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIo, 616828 for gene: CCDC115
Severe Paediatric Disorders v0.9 CARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C1QBP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 33, 617713 for gene: C1QBP
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.9 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.9 B4GALT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IId, 607091 for gene: B4GALT1
Severe Paediatric Disorders v0.9 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.9 APOA5 Louise Daugherty Added phenotypes Hyperchylomicronemia, late-onset, 144650 for gene: APOA5
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALG9 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210 for gene: ALG9
Severe Paediatric Disorders v0.9 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 ALG6 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 for gene: ALG6
Severe Paediatric Disorders v0.9 ALG3 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Id, 601110 for gene: ALG3
Severe Paediatric Disorders v0.9 ALG12 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ig, 607143 for gene: ALG12
Severe Paediatric Disorders v0.9 ALG11 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ip, 613661 for gene: ALG11
Severe Paediatric Disorders v0.9 ALG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 for gene: ALG1
Severe Paediatric Disorders v0.9 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.9 AK1 Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Severe Paediatric Disorders v0.9 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1
Severe Paediatric Disorders v0.9 ADGRG1 Louise Daugherty Added phenotypes Polymicrogyria, bilateral perisylvian, 615752; Polymicrogyria, bilateral frontoparietal, 606854 for gene: ADGRG1
Severe Paediatric Disorders v0.9 ACTN1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 15, 615193 for gene: ACTN1
Severe Paediatric Disorders v0.9 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.9 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ABCA4 Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
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 SLC18A2 Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.9 REEP2 Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.9 PTCHD1 Louise Daugherty Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.9 MRPL44 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.9 DDOST Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.9 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.9 VSX2 Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
Severe Paediatric Disorders v0.9 VCP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.9 VARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.9 TUFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
Severe Paediatric Disorders v0.9 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.9 TTR Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.9 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.9 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.9 TSFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.9 TRMT5 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.9 TRMT10C Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.9 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.9 TP63 Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.9 TMEM165 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.9 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.9 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.9 TBXA2R Louise Daugherty Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.9 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.9 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.9 TARDBP Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.9 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.9 SSR4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
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 SQSTM1 Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.9 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.9 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.9 SLFN14 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Severe Paediatric Disorders v0.9 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.9 SLC39A8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.9 SLC35C1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.9 SLC35A2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.9 SLC35A1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.9 SLC26A2 Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.9 SLC25A26 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
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 SGCD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.9 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.9 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.9 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 SCN1B Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.9 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.9 RUNX1 Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.9 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.9 RPSA Louise Daugherty Added phenotypes Asplenia, isolated congenital, 271400 for gene: RPSA
Severe Paediatric Disorders v0.9 RMND1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 for gene: RMND1
Severe Paediatric Disorders v0.9 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.9 RFT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type In, 612015 for gene: RFT1
Severe Paediatric Disorders v0.9 RET Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: RET
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 RASGRP2 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 18, 615888 for gene: RASGRP2
Severe Paediatric Disorders v0.9 RAF1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Severe Paediatric Disorders v0.9 PRPS1 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
Severe Paediatric Disorders v0.9 PRNP Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
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 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.9 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.9 PMM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 for gene: PMM2
Severe Paediatric Disorders v0.9 PLCG2 Louise Daugherty Added phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 for gene: PLCG2
Severe Paediatric Disorders v0.9 PLAU Louise Daugherty Added phenotypes Quebec platelet disorder, 601709 for gene: PLAU
Severe Paediatric Disorders v0.9 PLA2G6 Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
Severe Paediatric Disorders v0.9 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.9 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
Severe Paediatric Disorders v0.9 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.9 PGM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type It, 614921 for gene: PGM1
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 PAX6 Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
Severe Paediatric Disorders v0.9 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.9 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.9 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.9 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.9 P2RY12 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 8, 609821 for gene: P2RY12
Severe Paediatric Disorders v0.9 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 NGLY1 Louise Daugherty Added phenotypes Congenital disorder of deglycosylation, 615273 for gene: NGLY1
Severe Paediatric Disorders v0.9 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.9 NDUFA4 Louise Daugherty Added phenotypes Isolated complex IV deficiency for gene: NDUFA4
Severe Paediatric Disorders v0.9 NBEAL2 Louise Daugherty Added phenotypes Gray platelet syndrome, 139090 for gene: NBEAL2
Severe Paediatric Disorders v0.9 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.9 MYH7 Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
Severe Paediatric Disorders v0.9 MYH6 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
Severe Paediatric Disorders v0.9 MYH10 Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
Severe Paediatric Disorders v0.9 MTO1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702 for gene: MTO1
Severe Paediatric Disorders v0.9 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
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-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.9 MT-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.9 MT-ND6 Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
Severe Paediatric Disorders v0.9 MT-ATP6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
Severe Paediatric Disorders v0.9 MRPS34 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34
Severe Paediatric Disorders v0.9 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.9 MRPS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 36, 617950 for gene: MRPS2
Severe Paediatric Disorders v0.9 MRPL3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Severe Paediatric Disorders v0.9 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.9 MPDU1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type If, 609180 for gene: MPDU1
Severe Paediatric Disorders v0.9 MOGS Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIb, 606056 for gene: MOGS
Severe Paediatric Disorders v0.9 MIPEP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 31, 617228 for gene: MIPEP
Severe Paediatric Disorders v0.9 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.9 MGAT2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIa, 212066 for gene: MGAT2
Severe Paediatric Disorders v0.9 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.9 MEIS2 Louise Daugherty Added phenotypes Cleft palate, cardiac defects, and mental retardation, 600987 for gene: MEIS2
Severe Paediatric Disorders v0.9 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.9 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.9 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.9 LMNA Louise Daugherty Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Severe Paediatric Disorders v0.9 LDB3 Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 24, 601493; Left ventricular noncompaction 3, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Myopathy, myofibrillar, 4, 609452 for gene: LDB3
Severe Paediatric Disorders v0.9 LAT Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Severe Paediatric Disorders v0.9 KDM1A Louise Daugherty Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 for gene: KDM1A
Severe Paediatric Disorders v0.9 KCNQ1 Louise Daugherty Added phenotypes Long QT syndrome 1, 192500; Short QT syndrome 2, 609621; Atrial fibrillation, familial, 3, 607554; Jervell and Lange-Nielsen syndrome, 220400 for gene: KCNQ1
Severe Paediatric Disorders v0.9 KCNJ2 Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2
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 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 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.9 IKBKG Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 2, 300640; Incontinentia pigmenti, 308300; Immunodeficiency 33, 300636; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency, isolated, 300584; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 for gene: IKBKG
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 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322; HPRT-related gout, 300323 for gene: HPRT1
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 GTPBP3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 23, 616198 for gene: GTPBP3
Severe Paediatric Disorders v0.9 GP6 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 11, 614201 for gene: GP6
Severe Paediatric Disorders v0.9 GP1BB Louise Daugherty Added phenotypes Giant platelet disorder, isolated, 231200; Bernard-Soulier syndrome, type B, 231200 for gene: GP1BB
Severe Paediatric Disorders v0.9 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
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 GH1 Louise Daugherty Added phenotypes Growth hormone deficiency, isolated, type IA, 262400; Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type II, 173100 for gene: GH1
Severe Paediatric Disorders v0.9 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.9 GFM2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 39, 618397 for gene: GFM2
Severe Paediatric Disorders v0.9 GFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 for gene: GFM1
Severe Paediatric Disorders v0.9 GFI1B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 17, 187900 for gene: GFI1B
Severe Paediatric Disorders v0.9 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100; Microphthalmia with coloboma 6, digenic, 613703 for gene: GDF6
Severe Paediatric Disorders v0.9 GCK Louise Daugherty Added phenotypes Diabetes mellitus, permanent neonatal, 606176; MODY, type II, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853 for gene: GCK
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 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
Severe Paediatric Disorders v0.9 FTL Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL
Severe Paediatric Disorders v0.9 FREM2 Louise Daugherty Added phenotypes Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570 for gene: FREM2
Severe Paediatric Disorders v0.9 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.9 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.9 FLNA Louise Daugherty Added phenotypes Congenital short bowel syndrome, 300048; Melnick-Needles syndrome, 309350; Terminal osseous dysplasia, 300244; Intestinal pseudoobstruction, neuronal, 300048; ?FG syndrome 2, 300321; Otopalatodigital syndrome, type II, 304120; Heterotopia, periventricular, 1, 300049; Cardiac valvular dysplasia, X-linked, 314400; Frontometaphyseal dysplasia 1, 305620; Otopalatodigital syndrome, type I, 311300 for gene: FLNA
Severe Paediatric Disorders v0.9 FLI1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1
Severe Paediatric Disorders v0.9 FKTN Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.9 FIG4 Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4J, 611228; Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.9 FHL1 Louise Daugherty Added phenotypes ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Myopathy, X-linked, with postural muscle atrophy, 300696; Scapuloperoneal myopathy, X-linked dominant, 300695 for gene: FHL1
Severe Paediatric Disorders v0.9 FBLN5 Louise Daugherty Added phenotypes Macular degeneration, age-related, 3, 608895; ?Cutis laxa, autosomal dominant 2, 614434; Neuropathy, hereditary, with or without age-related macular degeneration, 608895; Cutis laxa, autosomal recessive, type IA, 219100 for gene: FBLN5
Severe Paediatric Disorders v0.9 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.9 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.9 ELAC2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2
Severe Paediatric Disorders v0.9 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 DPM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iu, 615042 for gene: DPM2
Severe Paediatric Disorders v0.9 DPM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ie, 608799 for gene: DPM1
Severe Paediatric Disorders v0.9 DPAGT1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093 for gene: DPAGT1
Severe Paediatric Disorders v0.9 DOLK Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Im, 610768 for gene: DOLK
Severe Paediatric Disorders v0.9 DMD Louise Daugherty Added phenotypes Becker muscular dystrophy, 300376; Cardiomyopathy, dilated, 3B, 302045; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.9 DLAT Louise Daugherty Added phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Severe Paediatric Disorders v0.9 DHFR Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Severe Paediatric Disorders v0.9 DHDDS Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1bb, 613861; Developmental delay and seizures with or without movement abnormalities, 617836; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.9 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 CYP17A1 Louise Daugherty Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, 202110; 17,20-lyase deficiency, isolated, 202110 for gene: CYP17A1
Severe Paediatric Disorders v0.9 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
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 CRYAB Louise Daugherty Added phenotypes Cataract 16, multiple types, 613763; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 for gene: CRYAB
Severe Paediatric Disorders v0.9 COL7A1 Louise Daugherty Added phenotypes Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa, pretibial, 131850; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600; EBD inversa, 226600; EBD, Bart type, 132000 for gene: COL7A1
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 COG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIh, 611182 for gene: COG8
Severe Paediatric Disorders v0.9 COG7 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIe, 608779 for gene: COG7
Severe Paediatric Disorders v0.9 COG6 Louise Daugherty Added phenotypes Shaheen syndrome, 615328; Congenital disorder of glycosylation, type IIl, 614576 for gene: COG6
Severe Paediatric Disorders v0.9 COG5 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIi, 613612 for gene: COG5
Severe Paediatric Disorders v0.9 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.9 COG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIg, 611209 for gene: COG1
Severe Paediatric Disorders v0.9 COASY Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 for gene: COASY
Severe Paediatric Disorders v0.9 CHMP2B Louise Daugherty Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Severe Paediatric Disorders v0.9 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.9 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.9 CCDC115 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIo, 616828 for gene: CCDC115
Severe Paediatric Disorders v0.9 CARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2
Severe Paediatric Disorders v0.9 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.9 C1QBP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 33, 617713 for gene: C1QBP
Severe Paediatric Disorders v0.9 C19orf12 Louise Daugherty Added phenotypes ?Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Severe Paediatric Disorders v0.9 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Severe Paediatric Disorders v0.9 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.9 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.9 B4GALT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IId, 607091 for gene: B4GALT1
Severe Paediatric Disorders v0.9 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.9 APOA5 Louise Daugherty Added phenotypes Hyperchylomicronemia, late-onset, 144650 for gene: APOA5
Severe Paediatric Disorders v0.9 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353 for gene: ALS2
Severe Paediatric Disorders v0.9 ALG9 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Il, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210 for gene: ALG9
Severe Paediatric Disorders v0.9 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 ALG6 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 for gene: ALG6
Severe Paediatric Disorders v0.9 ALG3 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Id, 601110 for gene: ALG3
Severe Paediatric Disorders v0.9 ALG12 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ig, 607143 for gene: ALG12
Severe Paediatric Disorders v0.9 ALG11 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ip, 613661 for gene: ALG11
Severe Paediatric Disorders v0.9 ALG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 for gene: ALG1
Severe Paediatric Disorders v0.9 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.9 AK1 Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Severe Paediatric Disorders v0.9 AIFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614 for gene: AIFM1
Severe Paediatric Disorders v0.9 ADGRG1 Louise Daugherty Added phenotypes Polymicrogyria, bilateral perisylvian, 615752; Polymicrogyria, bilateral frontoparietal, 606854 for gene: ADGRG1
Severe Paediatric Disorders v0.9 ACTN1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 15, 615193 for gene: ACTN1
Severe Paediatric Disorders v0.9 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.9 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.9 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.9 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.9 ABCA4 Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
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 SLC18A2 Louise Daugherty Added phenotypes ?Amyotrophic lateral sclerosis 16, juvenile, 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 for gene: SLC18A2
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Added phenotypes Retinoblastoma, trilateral, 180200; Bladder cancer, somatic, 109800; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200; Small cell cancer of the lung, somatic, 182280 for gene: REEP2
Severe Paediatric Disorders v0.8 PTCHD1 Louise Daugherty Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.8 MRPL44 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.8 DDOST Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.8 WDR45 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.8 VSX2 Louise Daugherty Added phenotypes Microphthalmia, isolated 2, 610093; Microphthalmia with coloboma 3, 610092 for gene: VSX2
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 VARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.8 TUFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
Severe Paediatric Disorders v0.8 TUBB1 Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
Severe Paediatric Disorders v0.8 TTR Louise Daugherty Added phenotypes Amyloidosis, hereditary, transthyretin-related, 105210; Carpal tunnel syndrome, familial, 115430 for gene: TTR
Severe Paediatric Disorders v0.8 TTPA Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.8 TTN Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, dilated, 1G, 604145; Cardiomyopathy, familial hypertrophic, 9, 613765 for gene: TTN
Severe Paediatric Disorders v0.8 TSFM Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.8 TRMT5 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.8 TRMT10C Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.8 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.8 TP63 Louise Daugherty Added phenotypes Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Limb-mammary syndrome, 603543; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Split-hand/foot malformation 4, 605289 for gene: TP63
Severe Paediatric Disorders v0.8 TMEM165 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.8 TERT Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT
Severe Paediatric Disorders v0.8 TENM3 Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.8 TBXA2R Louise Daugherty Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TBK1 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.8 TARDBP Louise Daugherty Added phenotypes Frontotemporal lobar degeneration, TARDBP-related, 612069; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.8 STRA6 Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.8 SSR4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
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 SQSTM1 Louise Daugherty Added phenotypes Myopathy, distal, with rimmed vacuoles, 617158; Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.8 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Amyotrophic lateral sclerosis 5, juvenile, 602099; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11
Severe Paediatric Disorders v0.8 SOX3 Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.8 SLFN14 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
Severe Paediatric Disorders v0.8 SLC46A1 Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.8 SLC39A8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.8 SLC35C1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.8 SLC35A2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.8 SLC35A1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.8 SLC26A2 Louise Daugherty Added phenotypes Achondrogenesis Ib, 600972; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Diastrophic dysplasia, 222600; Atelosteogenesis, type II, 256050; Epiphyseal dysplasia, multiple, 4, 226900; De la Chapelle dysplasia, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.8 SLC25A26 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
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 SGCD Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287; Cardiomyopathy, dilated, 1L, 606685 for gene: SGCD
Severe Paediatric Disorders v0.8 SFXN4 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.8 SETX Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.8 SEPT9 Louise Daugherty Added phenotypes Ovarian carcinoma; Leukemia, acute myeloid, therapy-related; Amyotrophy, hereditary neuralgic, 162100 for gene: SEPT9
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000 for gene: SDHA
Severe Paediatric Disorders v0.8 SCN1B Louise Daugherty Added phenotypes Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.8 SC5D Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.8 RUNX1 Louise Daugherty Added phenotypes Platelet disorder, familial, with associated myeloid malignancy, 601399; Leukemia, acute myeloid, 601626 for gene: RUNX1
Severe Paediatric Disorders v0.8 RTEL1 Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373; Dyskeratosis congenita, autosomal dominant 4, 615190 for gene: RTEL1
Severe Paediatric Disorders v0.8 RPSA Louise Daugherty Added phenotypes Asplenia, isolated congenital, 271400 for gene: RPSA
Severe Paediatric Disorders v0.8 RMND1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 for gene: RMND1
Severe Paediatric Disorders v0.8 RHAG Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
Severe Paediatric Disorders v0.8 RFT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type In, 612015 for gene: RFT1
Severe Paediatric Disorders v0.8 RET Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: RET
Severe Paediatric Disorders v0.8 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.8 RASGRP2 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 18, 615888 for gene: RASGRP2
Severe Paediatric Disorders v0.8 RAF1 Louise Daugherty Added phenotypes Noonan syndrome 5, 611553; Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554 for gene: RAF1
Severe Paediatric Disorders v0.8 PSEN1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; ?Acne inversa, familial, 3, 613737; Pick disease, 172700; Alzheimer disease, type 3, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.8 PRSS56 Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
Severe Paediatric Disorders v0.8 PRPS1 Louise Daugherty Added phenotypes Phosphoribosylpyrophosphate synthetase superactivity, 300661; Deafness, X-linked 1, 304500; Arts syndrome, 301835; Gout, PRPS-related, 300661; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 for gene: PRPS1
Severe Paediatric Disorders v0.8 PRNP Louise Daugherty Added phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440; Prion disease with protracted course, 606688; Insomnia, fatal familial, 600072; Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Gerstmann-Straussler disease, 137440 for gene: PRNP
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 POLA1 Louise Daugherty Added phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220; Van Esch-O'Driscoll syndrome, 301030 for gene: POLA1
Severe Paediatric Disorders v0.8 PNPT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
Severe Paediatric Disorders v0.8 PMM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 for gene: PMM2
Severe Paediatric Disorders v0.8 PLCG2 Louise Daugherty Added phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 for gene: PLCG2
Severe Paediatric Disorders v0.8 PLAU Louise Daugherty Added phenotypes Quebec platelet disorder, 601709 for gene: PLAU
Severe Paediatric Disorders v0.8 PLA2G6 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953 for gene: PLA2G6
Severe Paediatric Disorders v0.8 PLA2G4A Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
Severe Paediatric Disorders v0.8 PIK3CA Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
Severe Paediatric Disorders v0.8 PHOX2B Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
Severe Paediatric Disorders v0.8 PGM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type It, 614921 for gene: PGM1
Severe Paediatric Disorders v0.8 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483 for gene: PDGFB
Severe Paediatric Disorders v0.8 PAX6 Louise Daugherty Added phenotypes Keratitis, 148190; Anterior segment dysgenesis 5, multiple subtypes, 604229; ?Coloboma of optic nerve, 120430; ?Coloboma, ocular, 120200; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Optic nerve hypoplasia, 165550; Cataract with late-onset corneal dystrophy, 106210 for gene: PAX6
Severe Paediatric Disorders v0.8 PARN Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
Severe Paediatric Disorders v0.8 PAPPA2 Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
Severe Paediatric Disorders v0.8 PANK2 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
Severe Paediatric Disorders v0.8 P4HTM Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
Severe Paediatric Disorders v0.8 P2RY12 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 8, 609821 for gene: P2RY12
Severe Paediatric Disorders v0.8 NUS1 Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
Severe Paediatric Disorders v0.8 NOTCH3 Louise Daugherty Added phenotypes ?Myofibromatosis, infantile 2, 615293; Lateral meningocele syndrome, 130720; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Severe Paediatric Disorders v0.8 NGLY1 Louise Daugherty Added phenotypes Congenital disorder of deglycosylation, 615273 for gene: NGLY1
Severe Paediatric Disorders v0.8 NECTIN1 Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
Severe Paediatric Disorders v0.8 NDUFA4 Louise Daugherty Added phenotypes Isolated complex IV deficiency for gene: NDUFA4
Severe Paediatric Disorders v0.8 NBEAL2 Louise Daugherty Added phenotypes Gray platelet syndrome, 139090 for gene: NBEAL2
Severe Paediatric Disorders v0.8 NARS2 Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
Severe Paediatric Disorders v0.8 MYH7 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1S, 613426; Cardiomyopathy, hypertrophic, 1, 192600; Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal recessive, 255160; Myopathy, myosin storage, autosomal dominant, 608358; Scapuloperoneal syndrome, myopathic type, 181430; Left ventricular noncompaction 5, 613426 for gene: MYH7
Severe Paediatric Disorders v0.8 MYH6 Louise Daugherty Added phenotypes Atrial septal defect 3, 614089; Cardiomyopathy, dilated, 1EE, 613252; Cardiomyopathy, hypertrophic, 14, 613251 for gene: MYH6
Severe Paediatric Disorders v0.8 MYH10 Louise Daugherty Added phenotypes MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis for gene: MYH10
Severe Paediatric Disorders v0.8 MTO1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702 for gene: MTO1
Severe Paediatric Disorders v0.8 MTFMT Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
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-TN Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
Severe Paediatric Disorders v0.8 MT-TH Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS for gene: MT-TH
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-TD Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
Severe Paediatric Disorders v0.8 MT-ND6 Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY for gene: MT-ND6
Severe Paediatric Disorders v0.8 MT-ATP6 Louise Daugherty Added phenotypes SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS; LEIGH SYNDROME; LEBER OPTIC ATROPHY; NARP SYNDROME for gene: MT-ATP6
Severe Paediatric Disorders v0.8 MRPS34 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34
Severe Paediatric Disorders v0.8 MRPS22 Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
Severe Paediatric Disorders v0.8 MRPS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 36, 617950 for gene: MRPS2
Severe Paediatric Disorders v0.8 MRPL3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Severe Paediatric Disorders v0.8 MPI Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
Severe Paediatric Disorders v0.8 MPDU1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type If, 609180 for gene: MPDU1
Severe Paediatric Disorders v0.8 MOGS Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIb, 606056 for gene: MOGS
Severe Paediatric Disorders v0.8 MIPEP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 31, 617228 for gene: MIPEP
Severe Paediatric Disorders v0.8 C19orf70 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
Severe Paediatric Disorders v0.8 MGAT2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIa, 212066 for gene: MGAT2
Severe Paediatric Disorders v0.8 MFRP Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
Severe Paediatric Disorders v0.8 MEIS2 Louise Daugherty Added phenotypes Cleft palate, cardiac defects, and mental retardation, 600987 for gene: MEIS2
Severe Paediatric Disorders v0.8 MATR3 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Severe Paediatric Disorders v0.8 MARS2 Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Severe Paediatric Disorders v0.8 MAGT1 Louise Daugherty Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853; Congenital disorder of glycosylation, type Icc, 301031 for gene: MAGT1
Severe Paediatric Disorders v0.8 LMNA Louise Daugherty Added phenotypes Lipodystrophy, familial partial, type 2, 151660; Cardiomyopathy, dilated, 1A, 115200; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112; Mandibuloacral dysplasia, 248370; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Charcot-Marie-Tooth disease, type 2B1, 605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Muscular dystrophy, congenital, 613205 for gene: LMNA
Severe Paediatric Disorders v0.8 LDB3 Louise Daugherty Added phenotypes Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, hypertrophic, 24, 601493; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493; Left ventricular noncompaction 3, 601493 for gene: LDB3
Severe Paediatric Disorders v0.8 LAT Louise Daugherty Added phenotypes Immunodeficiency 52, 617514 for gene: LAT
Severe Paediatric Disorders v0.8 KDM1A Louise Daugherty Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 for gene: KDM1A
Severe Paediatric Disorders v0.8 KCNQ1 Louise Daugherty Added phenotypes Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3, 607554; Jervell and Lange-Nielsen syndrome, 220400; Short QT syndrome 2, 609621 for gene: KCNQ1
Severe Paediatric Disorders v0.8 KCNJ2 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 9, 613980; Short QT syndrome 3, 609622; Andersen syndrome, 170390 for gene: KCNJ2
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 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 IRAK4 Louise Daugherty Added phenotypes Invasive pneumococcal disease, recurrent isolated, 1, 610799; IRAK4 deficiency, 607676 for gene: IRAK4
Severe Paediatric Disorders v0.8 IKBKG Louise Daugherty Added phenotypes Incontinentia pigmenti, 308300; Immunodeficiency, isolated, 300584; Ectodermal dysplasia and immunodeficiency 1, 300291; Immunodeficiency 33, 300636; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Invasive pneumococcal disease, recurrent isolated, 2, 300640 for gene: IKBKG
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 HPRT1 Louise Daugherty Added phenotypes Lesch-Nyhan syndrome, 300322; HPRT-related gout, 300323 for gene: HPRT1
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 GTPBP3 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 23, 616198 for gene: GTPBP3
Severe Paediatric Disorders v0.8 GP6 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 11, 614201 for gene: GP6
Severe Paediatric Disorders v0.8 GP1BB Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type B, 231200; Giant platelet disorder, isolated, 231200 for gene: GP1BB
Severe Paediatric Disorders v0.8 GP1BA Louise Daugherty Added phenotypes Bernard-Soulier syndrome, type A2 (dominant), 153670; Bernard-Soulier syndrome, type A1 (recessive), 231200; von Willebrand disease, platelet-type, 177820 for gene: GP1BA
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 GH1 Louise Daugherty Added phenotypes Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type II, 173100; Growth hormone deficiency, isolated, type IA, 262400; Growth hormone deficiency, isolated, type IB, 612781 for gene: GH1
Severe Paediatric Disorders v0.8 GGCX Louise Daugherty Added phenotypes Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842; Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 for gene: GGCX
Severe Paediatric Disorders v0.8 GFM2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 39, 618397 for gene: GFM2
Severe Paediatric Disorders v0.8 GFM1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 for gene: GFM1
Severe Paediatric Disorders v0.8 GFI1B Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 17, 187900 for gene: GFI1B
Severe Paediatric Disorders v0.8 GDF6 Louise Daugherty Added phenotypes Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Microphthalmia with coloboma 6, digenic, 613703; Microphthalmia, isolated 4, 613094; Klippel-Feil syndrome 1, autosomal dominant, 118100 for gene: GDF6
Severe Paediatric Disorders v0.8 GCK Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 3, 602485; MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, permanent neonatal, 606176 for gene: GCK
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 FUT8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation with defective fucosylation 1, 618005 for gene: FUT8
Severe Paediatric Disorders v0.8 FTL Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 3, 606159; L-ferritin deficiency, dominant and recessive, 615604; Hyperferritinemia-cataract syndrome, 600886 for gene: FTL
Severe Paediatric Disorders v0.8 FREM2 Louise Daugherty Added phenotypes Cryptophthalmos, unilateral or bilateral, isolated, 123570; Fraser syndrome 2, 617666 for gene: FREM2
Severe Paediatric Disorders v0.8 FOXP3 Louise Daugherty Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 for gene: FOXP3
Severe Paediatric Disorders v0.8 FOLR1 Louise Daugherty Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 for gene: FOLR1
Severe Paediatric Disorders v0.8 FLNA Louise Daugherty Added phenotypes Frontometaphyseal dysplasia 1, 305620; Heterotopia, periventricular, 1, 300049; Otopalatodigital syndrome, type II, 304120; Terminal osseous dysplasia, 300244; Otopalatodigital syndrome, type I, 311300; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Congenital short bowel syndrome, 300048; Cardiac valvular dysplasia, X-linked, 314400; ?FG syndrome 2, 300321 for gene: FLNA
Severe Paediatric Disorders v0.8 FLI1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 21, 617443 for gene: FLI1
Severe Paediatric Disorders v0.8 FKTN Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 for gene: FKTN
Severe Paediatric Disorders v0.8 FIG4 Louise Daugherty Added phenotypes ?Polymicrogyria, bilateral temporooccipital, 612691; Yunis-Varon syndrome, 216340; Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic lateral sclerosis 11, 612577 for gene: FIG4
Severe Paediatric Disorders v0.8 FHL1 Louise Daugherty Added phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718; Scapuloperoneal myopathy, X-linked dominant, 300695; ?Uruguay faciocardiomusculoskeletal syndrome, 300280; Myopathy, X-linked, with postural muscle atrophy, 300696 for gene: FHL1
Severe Paediatric Disorders v0.8 FBLN5 Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IA, 219100; ?Cutis laxa, autosomal dominant 2, 614434; Macular degeneration, age-related, 3, 608895; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 for gene: FBLN5
Severe Paediatric Disorders v0.8 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Severe Paediatric Disorders v0.8 EYA4 Louise Daugherty Added phenotypes ?Cardiomyopathy, dilated, 1J, 605362; Deafness, autosomal dominant 10, 601316 for gene: EYA4
Severe Paediatric Disorders v0.8 ELAC2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2
Severe Paediatric Disorders v0.8 EARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Severe Paediatric Disorders v0.8 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Keratosis palmoplantaris striata II, 612908; Skin fragility-woolly hair syndrome, 607655; Epidermolysis bullosa, lethal acantholytic, 609638; Arrhythmogenic right ventricular dysplasia 8, 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 for gene: DSP
Severe Paediatric Disorders v0.8 DPM2 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iu, 615042 for gene: DPM2
Severe Paediatric Disorders v0.8 DPM1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ie, 608799 for gene: DPM1
Severe Paediatric Disorders v0.8 DPAGT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 for gene: DPAGT1
Severe Paediatric Disorders v0.8 DOLK Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Im, 610768 for gene: DOLK
Severe Paediatric Disorders v0.8 DMD Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 3B, 302045; Becker muscular dystrophy, 300376; Duchenne muscular dystrophy, 310200 for gene: DMD
Severe Paediatric Disorders v0.8 DLAT Louise Daugherty Added phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Severe Paediatric Disorders v0.8 DHFR Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
Severe Paediatric Disorders v0.8 DHDDS Louise Daugherty Added phenotypes Developmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861; Retinitis pigmentosa 59, 613861 for gene: DHDDS
Severe Paediatric Disorders v0.8 DES Louise Daugherty Added phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Myopathy, myofibrillar, 1, 601419; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.8 CYP17A1 Louise Daugherty Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, 202110; 17,20-lyase deficiency, isolated, 202110 for gene: CYP17A1
Severe Paediatric Disorders v0.8 CXCR4 Louise Daugherty Added phenotypes Myelokathexis, isolated; WHIM syndrome, 193670 for gene: CXCR4
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 CRYAB Louise Daugherty Added phenotypes Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869; Myopathy, myofibrillar, 2, 608810; Cardiomyopathy, dilated, 1II, 615184; Cataract 16, multiple types, 613763 for gene: CRYAB
Severe Paediatric Disorders v0.8 COL7A1 Louise Daugherty Added phenotypes Transient bullous of the newborn, 131705; EBD, Bart type, 132000; Epidermolysis bullosa, pretibial, 131850; Epidermolysis bullosa dystrophica, AD, 131750; EBD, localisata variant; EBD inversa, 226600; Epidermolysis bullosa pruriginosa, 604129; Toenail dystrophy, isolated, 607523; Epidermolysis bullosa dystrophica, AR, 226600 for gene: COL7A1
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 COG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIh, 611182 for gene: COG8
Severe Paediatric Disorders v0.8 COG7 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIe, 608779 for gene: COG7
Severe Paediatric Disorders v0.8 COG6 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328 for gene: COG6
Severe Paediatric Disorders v0.8 COG5 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIi, 613612 for gene: COG5
Severe Paediatric Disorders v0.8 COG4 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150 for gene: COG4
Severe Paediatric Disorders v0.8 COG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIg, 611209 for gene: COG1
Severe Paediatric Disorders v0.8 COASY Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643 for gene: COASY
Severe Paediatric Disorders v0.8 CHMP2B Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 17, 614696; Dementia, familial, nonspecific, 600795 for gene: CHMP2B
Severe Paediatric Disorders v0.8 CHCHD10 Louise Daugherty Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 for gene: CHCHD10
Severe Paediatric Disorders v0.8 CFTR Louise Daugherty Added phenotypes Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180 for gene: CFTR
Severe Paediatric Disorders v0.8 CCDC115 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIo, 616828 for gene: CCDC115
Severe Paediatric Disorders v0.8 CARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2
Severe Paediatric Disorders v0.8 C9orf72 Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 for gene: C9orf72
Severe Paediatric Disorders v0.8 C1QBP Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 33, 617713 for gene: C1QBP
Severe Paediatric Disorders v0.8 C19orf12 Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043 for gene: C19orf12
Severe Paediatric Disorders v0.8 C12orf65 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Severe Paediatric Disorders v0.8 BTK Louise Daugherty Added phenotypes Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200; Agammaglobulinemia, X-linked 1, 300755 for gene: BTK
Severe Paediatric Disorders v0.8 BAG3 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954 for gene: BAG3
Severe Paediatric Disorders v0.8 B4GALT1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IId, 607091 for gene: B4GALT1
Severe Paediatric Disorders v0.8 ARPC1B Louise Daugherty Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B
Severe Paediatric Disorders v0.8 APOA5 Louise Daugherty Added phenotypes Hyperchylomicronemia, late-onset, 144650 for gene: APOA5
Severe Paediatric Disorders v0.8 ALS2 Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2
Severe Paediatric Disorders v0.8 ALG9 Louise Daugherty Added phenotypes Gillessen-Kaesbach-Nishimura syndrome, 263210; Congenital disorder of glycosylation, type Il, 608776 for gene: ALG9
Severe Paediatric Disorders v0.8 ALG8 Louise Daugherty Added phenotypes Polycystic liver disease 3 with or without kidney cysts, 617874; Congenital disorder of glycosylation, type Ih, 608104 for gene: ALG8
Severe Paediatric Disorders v0.8 ALG6 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 for gene: ALG6
Severe Paediatric Disorders v0.8 ALG3 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Id, 601110 for gene: ALG3
Severe Paediatric Disorders v0.8 ALG12 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ig, 607143 for gene: ALG12
Severe Paediatric Disorders v0.8 ALG11 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ip, 613661 for gene: ALG11
Severe Paediatric Disorders v0.8 ALG1 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 for gene: ALG1
Severe Paediatric Disorders v0.8 ALDH1A3 Louise Daugherty Added phenotypes Microphthalmia, isolated 8, 615113 for gene: ALDH1A3
Severe Paediatric Disorders v0.8 AK1 Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Severe Paediatric Disorders v0.8 AIFM1 Louise Daugherty Added phenotypes Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816; Deafness, X-linked 5, 300614 for gene: AIFM1
Severe Paediatric Disorders v0.8 ADGRG1 Louise Daugherty Added phenotypes Polymicrogyria, bilateral perisylvian, 615752; Polymicrogyria, bilateral frontoparietal, 606854 for gene: ADGRG1
Severe Paediatric Disorders v0.8 ACTN1 Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 15, 615193 for gene: ACTN1
Severe Paediatric Disorders v0.8 ACTL6B Louise Daugherty Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B
Severe Paediatric Disorders v0.8 ACTC1 Louise Daugherty Added phenotypes Left ventricular noncompaction 4, 613424; Cardiomyopathy, dilated, 1R, 613424; Atrial septal defect 5, 612794; Cardiomyopathy, hypertrophic, 11, 612098 for gene: ACTC1
Severe Paediatric Disorders v0.8 ACP5 Louise Daugherty Added phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 for gene: ACP5
Severe Paediatric Disorders v0.8 ABCC9 Louise Daugherty Added phenotypes Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; Cardiomyopathy, dilated, 1O, 608569 for gene: ABCC9
Severe Paediatric Disorders v0.8 ABCA4 Louise Daugherty Added phenotypes Retinal dystrophy, early-onset severe, 248200; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200; Cone-rod dystrophy 3, 604116; Retinitis pigmentosa 19, 601718 for gene: ABCA4
Severe Paediatric Disorders v0.8 AARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2
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 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 SLC18A2 Louise Daugherty Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
Severe Paediatric Disorders v0.8 REEP2 Louise Daugherty Mode of inheritance for gene REEP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
Severe Paediatric Disorders v0.8 PTCHD1 Louise Daugherty Mode of inheritance for gene PTCHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
Severe Paediatric Disorders v0.8 MRPL44 Louise Daugherty Mode of inheritance for gene MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
Severe Paediatric Disorders v0.8 DDOST Louise Daugherty Mode of inheritance for gene DDOST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
Severe Paediatric Disorders v0.8 ZNF711 Louise Daugherty Mode of inheritance for gene ZNF711 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
Severe Paediatric Disorders v0.8 WDR45 Louise Daugherty Mode of inheritance for gene WDR45 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 Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
Severe Paediatric Disorders v0.8 VSX2 Louise Daugherty Mode of inheritance for gene VSX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
Severe Paediatric Disorders v0.8 VCP Louise Daugherty Mode of inheritance for gene VCP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
Severe Paediatric Disorders v0.8 VARS2 Louise Daugherty Mode of inheritance for gene VARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
Severe Paediatric Disorders v0.8 TUFM Louise Daugherty Mode of inheritance for gene TUFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
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 TTR Louise Daugherty Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
Severe Paediatric Disorders v0.8 TTPA Louise Daugherty Mode of inheritance for gene TTPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Severe Paediatric Disorders v0.8 TTN Louise Daugherty Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
Severe Paediatric Disorders v0.8 TSFM Louise Daugherty Mode of inheritance for gene TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
Severe Paediatric Disorders v0.8 TRMT5 Louise Daugherty Mode of inheritance for gene TRMT5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
Severe Paediatric Disorders v0.8 TRMT10C Louise Daugherty Mode of inheritance for gene TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Severe Paediatric Disorders v0.8 TRIT1 Louise Daugherty Mode of inheritance for gene TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.8 TP63 Louise Daugherty Mode of inheritance for gene TP63 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
Severe Paediatric Disorders v0.8 TMEM165 Louise Daugherty Mode of inheritance for gene TMEM165 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
Severe Paediatric Disorders v0.8 TERT Louise Daugherty Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
Severe Paediatric Disorders v0.8 TENM3 Louise Daugherty Mode of inheritance for gene TENM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
Severe Paediatric Disorders v0.8 TBXA2R Louise Daugherty Mode of inheritance for gene TBXA2R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
Severe Paediatric Disorders v0.8 TBX22 Louise Daugherty Mode of inheritance for gene TBX22 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 ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
Severe Paediatric Disorders v0.8 TBK1 Louise Daugherty Mode of inheritance for gene TBK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
Severe Paediatric Disorders v0.8 TARDBP Louise Daugherty Mode of inheritance for gene TARDBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
Severe Paediatric Disorders v0.8 SYN1 Louise Daugherty Mode of inheritance for gene SYN1 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 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
Severe Paediatric Disorders v0.8 STRA6 Louise Daugherty Mode of inheritance for gene STRA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
Severe Paediatric Disorders v0.8 STAG2 Louise Daugherty Mode of inheritance for gene STAG2 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 Mullegama-Klein-Martinez syndrome, 301022 for gene: STAG2
Severe Paediatric Disorders v0.8 SSR4 Louise Daugherty Mode of inheritance for gene SSR4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
Severe Paediatric Disorders v0.8 SRY Louise Daugherty Mode of inheritance for gene SRY 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 46XX sex reversal 1, 400045; 46XY sex reversal 1, 400044 for gene: SRY
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 SQSTM1 Louise Daugherty Mode of inheritance for gene SQSTM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
Severe Paediatric Disorders v0.8 SPG11 Louise Daugherty Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
Severe Paediatric Disorders v0.8 SOX3 Louise Daugherty Mode of inheritance for gene SOX3 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, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
Severe Paediatric Disorders v0.8 SMPX Louise Daugherty Mode of inheritance for gene SMPX 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 Deafness, X-linked 4, 300066 for gene: SMPX
Severe Paediatric Disorders v0.8 SMC1A Louise Daugherty Mode of inheritance for gene SMC1A 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 Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
Severe Paediatric Disorders v0.8 SLFN14 Louise Daugherty Mode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
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 SLC46A1 Louise Daugherty Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Severe Paediatric Disorders v0.8 SLC39A8 Louise Daugherty Mode of inheritance for gene SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
Severe Paediatric Disorders v0.8 SLC35C1 Louise Daugherty Mode of inheritance for gene SLC35C1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
Severe Paediatric Disorders v0.8 SLC35A2 Louise Daugherty Mode of inheritance for gene SLC35A2 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 Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
Severe Paediatric Disorders v0.8 SLC35A1 Louise Daugherty Mode of inheritance for gene SLC35A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
Severe Paediatric Disorders v0.8 SLC26A2 Louise Daugherty Mode of inheritance for gene SLC26A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
Severe Paediatric Disorders v0.8 SLC25A26 Louise Daugherty Mode of inheritance for gene SLC25A26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
Severe Paediatric Disorders v0.8 SLC16A2 Louise Daugherty Mode of inheritance for gene SLC16A2 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 Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
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 SGCD Louise Daugherty Mode of inheritance for gene SGCD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
Severe Paediatric Disorders v0.8 SFXN4 Louise Daugherty Mode of inheritance for gene SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Severe Paediatric Disorders v0.8 SETX Louise Daugherty Mode of inheritance for gene SETX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
Severe Paediatric Disorders v0.8 SEPT9 Louise Daugherty Mode of inheritance for gene SEPT9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.8 SCN1B Louise Daugherty Mode of inheritance for gene SCN1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
Severe Paediatric Disorders v0.8 SC5D Louise Daugherty Mode of inheritance for gene SC5D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lathosterolosis, 607330 for gene: SC5D
Severe Paediatric Disorders v0.8 RUNX1 Louise Daugherty Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
Severe Paediatric Disorders v0.8 RTEL1 Louise Daugherty Mode of inheritance for gene RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
Severe Paediatric Disorders v0.7 LAT Louise Daugherty Source Next Generation Children Project was added to LAT.
Severe Paediatric Disorders v0.7 DLAT Louise Daugherty Source Next Generation Children Project was added to DLAT.
Severe Paediatric Disorders v0.5 LAT Louise Daugherty Source Expert Review Green was added to LAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 DLAT Louise Daugherty Source Expert Review Green was added to DLAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 LAT Louise Daugherty gene: LAT was added
gene: LAT was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: LAT was set to
Severe Paediatric Disorders v0.4 DLAT Louise Daugherty gene: DLAT was added
gene: DLAT was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DLAT was set to