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Severe Paediatric Disorders v0.17 HACE1 Louise Daugherty Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 ACE Louise Daugherty Mode of inheritance for gene ACE was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACE Louise Daugherty reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HACE1 Louise Daugherty Publications for gene HACE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ACE Louise Daugherty Publications for gene ACE were updated from to 30847515
Severe Paediatric Disorders v0.10 TBX1 Louise Daugherty Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
Severe Paediatric Disorders v0.10 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.10 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.10 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.10 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.10 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.10 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
Severe Paediatric Disorders v0.10 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.10 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.10 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.10 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.10 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.10 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.10 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.10 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.10 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.10 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.10 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
Severe Paediatric Disorders v0.9 TBX1 Louise Daugherty Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
Severe Paediatric Disorders v0.9 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.9 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.9 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.9 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.9 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
Severe Paediatric Disorders v0.9 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.9 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.9 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
Severe Paediatric Disorders v0.9 TBX1 Louise Daugherty Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
Severe Paediatric Disorders v0.9 SETBP1 Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.9 SCN4A Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.9 RAPSN Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
Severe Paediatric Disorders v0.9 PPP1R21 Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.9 NALCN Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
Severe Paediatric Disorders v0.9 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
Severe Paediatric Disorders v0.9 MUSK Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
Severe Paediatric Disorders v0.9 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.9 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.9 CP Louise Daugherty Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Cerebellar ataxia, 604290 for gene: CP
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.9 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.9 AMACR Louise Daugherty Added phenotypes Alpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950 for gene: AMACR
Severe Paediatric Disorders v0.9 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.9 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
Severe Paediatric Disorders v0.8 TBX1 Louise Daugherty Added phenotypes Conotruncal anomaly face syndrome, 217095; DiGeorge syndrome, 188400; Velocardiofacial syndrome, 192430; Tetralogy of Fallot, 187500 for gene: TBX1
Severe Paediatric Disorders v0.8 SETBP1 Louise Daugherty Added phenotypes Schinzel-Giedion midface retraction syndrome, 269150; Mental retardation, autosomal dominant 29, 616078 for gene: SETBP1
Severe Paediatric Disorders v0.8 SCN4A Louise Daugherty Added phenotypes Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Paramyotonia congenita, 168300; Hyperkalemic periodic paralysis, type 2, 170500; Myotonia congenita, atypical, acetazolamide-responsive, 608390 for gene: SCN4A
Severe Paediatric Disorders v0.8 RAPSN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; Fetal akinesia deformation sequence 2, 618388 for gene: RAPSN
Severe Paediatric Disorders v0.8 PPP1R21 Louise Daugherty Added phenotypes Hepatosplenomegaly; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Abnormality of the respiratory system for gene: PPP1R21
Severe Paediatric Disorders v0.8 NALCN Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419; Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 for gene: NALCN
Severe Paediatric Disorders v0.8 NAGS Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
Severe Paediatric Disorders v0.8 MUSK Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Fetal akinesia deformation sequence 1, 208150 for gene: MUSK
Severe Paediatric Disorders v0.8 KCTD7 Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 for gene: KCTD7
Severe Paediatric Disorders v0.8 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756 for gene: HACE1
Severe Paediatric Disorders v0.8 CP Louise Daugherty Added phenotypes Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 for gene: CP
Severe Paediatric Disorders v0.8 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 for gene: CHRNE
Severe Paediatric Disorders v0.8 CHRND Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.8 CHRNB1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 for gene: CHRNB1
Severe Paediatric Disorders v0.8 AMMECR1 Louise Daugherty Added phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 for gene: AMMECR1
Severe Paediatric Disorders v0.8 AMACR Louise Daugherty Added phenotypes Bile acid synthesis defect, congenital, 4, 214950; Alpha-methylacyl-CoA racemase deficiency, 614307 for gene: AMACR
Severe Paediatric Disorders v0.8 ACE Louise Daugherty Added phenotypes Renal tubular dysgenesis, 267430 for gene: ACE
Severe Paediatric Disorders v0.8 ACAT1 Louise Daugherty Added phenotypes Alpha-methylacetoacetic aciduria, 203750 for gene: ACAT1
Severe Paediatric Disorders v0.8 TBX1 Louise Daugherty Mode of inheritance for gene TBX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
Severe Paediatric Disorders v0.8 SETBP1 Louise Daugherty Mode of inheritance for gene SETBP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
Severe Paediatric Disorders v0.8 SCN4A Louise Daugherty Mode of inheritance for gene SCN4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
Severe Paediatric Disorders v0.7 HACE1 Louise Daugherty Source Next Generation Children Project was added to HACE1.
Severe Paediatric Disorders v0.7 ACE Louise Daugherty Source Next Generation Children Project was added to ACE.
Severe Paediatric Disorders v0.5 HACE1 Louise Daugherty Source Expert Review Green was added to HACE1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 ACE Louise Daugherty Source Expert Review Green was added to ACE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HACE1 Louise Daugherty gene: HACE1 was added
gene: HACE1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to
Severe Paediatric Disorders v0.4 ACE Louise Daugherty gene: ACE was added
gene: ACE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ACE was set to