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Likely inborn error of metabolism - targeted testing not possible v1.47 | AMPD1 |
Ivone Leong Source NHS GMS was added to AMPD1. Source London North GLH was added to AMPD1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AMN |
Ivone Leong Source NHS GMS was added to AMN. Source London North GLH was added to AMN. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AMACR |
Ivone Leong Source NHS GMS was added to AMACR. Source London North GLH was added to AMACR. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALPL |
Ivone Leong Source NHS GMS was added to ALPL. Source London North GLH was added to ALPL. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG9 |
Ivone Leong Source NHS GMS was added to ALG9. Source London North GLH was added to ALG9. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG8 |
Ivone Leong Source NHS GMS was added to ALG8. Source London North GLH was added to ALG8. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG6 |
Ivone Leong Source NHS GMS was added to ALG6. Source London North GLH was added to ALG6. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG3 |
Ivone Leong Source NHS GMS was added to ALG3. Source London North GLH was added to ALG3. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG2 |
Ivone Leong Source NHS GMS was added to ALG2. Source London North GLH was added to ALG2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG14 |
Ivone Leong Source NHS GMS was added to ALG14. Source London North GLH was added to ALG14. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG13 |
Ivone Leong Source NHS GMS was added to ALG13. Source London North GLH was added to ALG13. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG12 |
Ivone Leong Source NHS GMS was added to ALG12. Source London North GLH was added to ALG12. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG11 |
Ivone Leong Source NHS GMS was added to ALG11. Source London North GLH was added to ALG11. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG1 |
Ivone Leong Source NHS GMS was added to ALG1. Source London North GLH was added to ALG1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDOB |
Ivone Leong Source NHS GMS was added to ALDOB. Source London North GLH was added to ALDOB. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDOA |
Ivone Leong Source NHS GMS was added to ALDOA. Source London North GLH was added to ALDOA. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH7A1 |
Ivone Leong Source NHS GMS was added to ALDH7A1. Source London North GLH was added to ALDH7A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH6A1 |
Ivone Leong Source NHS GMS was added to ALDH6A1. Source London North GLH was added to ALDH6A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH5A1 |
Ivone Leong Source NHS GMS was added to ALDH5A1. Source London North GLH was added to ALDH5A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH4A1 |
Ivone Leong Source NHS GMS was added to ALDH4A1. Source London North GLH was added to ALDH4A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH3A2 |
Ivone Leong Source NHS GMS was added to ALDH3A2. Source London North GLH was added to ALDH3A2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH18A1 |
Ivone Leong Source NHS GMS was added to ALDH18A1. Source London North GLH was added to ALDH18A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALAS2 |
Ivone Leong Source NHS GMS was added to ALAS2. Source London North GLH was added to ALAS2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALAD |
Ivone Leong Source NHS GMS was added to ALAD. Source London North GLH was added to ALAD. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AKR1D1 |
Ivone Leong Source NHS GMS was added to AKR1D1. Source London North GLH was added to AKR1D1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AIFM1 |
Ivone Leong Source NHS GMS was added to AIFM1. Source London North GLH was added to AIFM1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AHCY |
Ivone Leong Source NHS GMS was added to AHCY. Source London North GLH was added to AHCY. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGXT |
Ivone Leong Source NHS GMS was added to AGXT. Source London North GLH was added to AGXT. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGPS |
Ivone Leong Source NHS GMS was added to AGPS. Source London North GLH was added to AGPS. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGL |
Ivone Leong Source NHS GMS was added to AGL. Source London North GLH was added to AGL. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGK |
Ivone Leong Source NHS GMS was added to AGK. Source London North GLH was added to AGK. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AGA |
Ivone Leong Source NHS GMS was added to AGA. Source London North GLH was added to AGA. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AFG3L2 |
Ivone Leong Source NHS GMS was added to AFG3L2. Source London North GLH was added to AFG3L2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ADSL |
Ivone Leong Source NHS GMS was added to ADSL. Source London North GLH was added to ADSL. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | COQ8A |
Ivone Leong Source NHS GMS was added to COQ8A. Source London North GLH was added to COQ8A. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ADAR |
Ivone Leong Source NHS GMS was added to ADAR. Source London North GLH was added to ADAR. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ADA |
Ivone Leong Source NHS GMS was added to ADA. Source London North GLH was added to ADA. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACY1 |
Ivone Leong Source NHS GMS was added to ACY1. Source London North GLH was added to ACY1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACSF3 |
Ivone Leong Source NHS GMS was added to ACSF3. Source London North GLH was added to ACSF3. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACOX1 |
Ivone Leong Source NHS GMS was added to ACOX1. Source London North GLH was added to ACOX1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAT1 |
Ivone Leong Source NHS GMS was added to ACAT1. Source London North GLH was added to ACAT1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACADVL |
Ivone Leong Source NHS GMS was added to ACADVL. Source London North GLH was added to ACADVL. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACADSB |
Ivone Leong Source NHS GMS was added to ACADSB. Source London North GLH was added to ACADSB. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACADS |
Ivone Leong Source NHS GMS was added to ACADS. Source London North GLH was added to ACADS. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACADM |
Ivone Leong Source NHS GMS was added to ACADM. Source London North GLH was added to ACADM. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAD9 |
Ivone Leong Source NHS GMS was added to ACAD9. Source London North GLH was added to ACAD9. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAD8 |
Ivone Leong Source NHS GMS was added to ACAD8. Source London North GLH was added to ACAD8. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABHD5 |
Ivone Leong Source NHS GMS was added to ABHD5. Source London North GLH was added to ABHD5. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABHD12 |
Ivone Leong Source NHS GMS was added to ABHD12. Source London North GLH was added to ABHD12. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCG8 |
Ivone Leong Source NHS GMS was added to ABCG8. Source London North GLH was added to ABCG8. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCG5 |
Ivone Leong Source NHS GMS was added to ABCG5. Source London North GLH was added to ABCG5. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCG2 |
Ivone Leong Source NHS GMS was added to ABCG2. Source London North GLH was added to ABCG2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCD4 |
Ivone Leong Source NHS GMS was added to ABCD4. Source London North GLH was added to ABCD4. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCD1 |
Ivone Leong Source NHS GMS was added to ABCD1. Source London North GLH was added to ABCD1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB7 |
Ivone Leong Source NHS GMS was added to ABCB7. Source London North GLH was added to ABCB7. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB4 |
Ivone Leong Source NHS GMS was added to ABCB4. Source London North GLH was added to ABCB4. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB11 |
Ivone Leong Source NHS GMS was added to ABCB11. Source London North GLH was added to ABCB11. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCA1 |
Ivone Leong Source NHS GMS was added to ABCA1. Source London North GLH was added to ABCA1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABAT |
Ivone Leong Source NHS GMS was added to ABAT. Source London North GLH was added to ABAT. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AASS |
Ivone Leong Source NHS GMS was added to AASS. Source London North GLH was added to AASS. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | AARS2 |
Ivone Leong Source NHS GMS was added to AARS2. Source London North GLH was added to AARS2. |
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Likely inborn error of metabolism - targeted testing not possible v1.46 | ISPD | Louise Daugherty commented on gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.46 | ISPD | Louise Daugherty Tag new-gene-name tag was added to gene: ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.46 | RRM2B | Rebecca Foulger Phenotypes for gene: RRM2B were changed from 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.45 | SSR4 | Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.44 | TWNK | Rebecca Foulger Phenotypes for gene: TWNK were changed from Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.43 | SLC25A4 | Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.42 | MDH2 | Eleanor Williams Phenotypes for gene: MDH2 were changed from Epileptic encephalopathy, early infantile, 51 to Epileptic encephalopathy, early infantile, 51 617339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.41 | SCO2 | Rebecca Foulger Phenotypes for gene: SCO2 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.40 | SAMHD1 | Rebecca Foulger Phenotypes for gene: SAMHD1 were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) to (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5); Aicardi-Goutieres syndrome 5, 612952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.39 | HTRA2 | Eleanor Williams Phenotypes for gene: HTRA2 were changed from 3-methylglutaconic aciduria, type VIII to 3-methylglutaconic aciduria, type VIII 617248 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.38 | NDUFS4 | Eleanor Williams Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency to Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.37 | FXN | Eleanor Williams Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.36 | COX15 | Eleanor Williams Phenotypes for gene: COX15 were changed from Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.35 | BCS1L | Eleanor Williams Phenotypes for gene: BCS1L were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358 to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.34 | PPA2 | Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.33 | PRKAG2 | Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.32 | SLC17A5 | Louise Daugherty Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.31 | SLC17A5 | Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.30 | SMPD1 | Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.29 | PHKA1 | Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.28 | NPC2 | Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.27 | CLN3 | Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.26 | CLN5 | Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.25 | CTH | Louise Daugherty Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.24 | CTSD | Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.23 | DNAJC5 | Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.22 | FAR1 | Louise Daugherty Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.21 | FAR1 | Louise Daugherty Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.20 | FUCA1 | Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.19 | GAA | Louise Daugherty Phenotypes for gene: GAA were changed from to Glycogen storage disease II, 232300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.18 | GALK1 | Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.17 | GCDH | Louise Daugherty Phenotypes for gene: GCDH were changed from to Glutaricaciduria, type I, 231670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.16 | GLDC | Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.15 | GM2A | Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.14 | L2HGDH | Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.13 | LMBRD1 | Louise Daugherty Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.12 | MCCC1 | Louise Daugherty Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.11 | MCCC2 | Louise Daugherty Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.10 | MFSD8 | Louise Daugherty Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 61095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.9 | CLN6 | Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.8 | COX20 | Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.7 | CP | Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.6 | CYP27A1 | Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.5 | GLRA1 | Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.4 | HEXA | Louise Daugherty Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.3 | HEXB | Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.2 | MMACHC | Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.1 | WFS1 | Louise Daugherty Phenotypes for gene: WFS1 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1, 222300; Mitochondrial respiratory chain disorders caused by nuclear variants only; Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.25 | GLUD1 | Ellen McDonagh Added comment: Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.25 | GLUD1 | Ellen McDonagh Mode of pathogenicity for gene: GLUD1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Marked Region: ISCA-37440-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Added comment: Comment when marking as ready: Coordinates and information checked against the original source panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh Region: isca-37440-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Ellen McDonagh commented on Region: ISCA-37440-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | ISCA-37440-Loss | Louise Daugherty commented on Region: ISCA-37440-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | FXN_GAA | Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.24 | FXN_GAA | Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.23 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Inborn errors of metabolism. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: Source PanelApp panels : Mitochondrial disorders v1.86 Sources: Expert list |
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Likely inborn error of metabolism - targeted testing not possible v0.22 | DMPK_CTG | Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.22 | DMPK_CTG | Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.21 | DMPK_CTG |
Louise Daugherty STR: DMPK_CTG was added STR: DMPK_CTG was added to Inborn errors of metabolism. Sources: Expert list STR tags were added to STR: DMPK_CTG. Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900 Review for STR: DMPK_CTG was set to GREEN Added comment: Source PanelApp panels : Mitochondrial disorders v1.86 Sources: Expert list |
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Likely inborn error of metabolism - targeted testing not possible v0.20 | Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.19 | TIMM50 | Sarah Leigh Classified gene: TIMM50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.19 | TIMM50 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.19 | TIMM50 | Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.18 | TIMM50 |
Sarah Leigh gene: TIMM50 was added gene: TIMM50 was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM50 were set to 27573165 Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX 617698 Review for gene: TIMM50 was set to AMBER Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract. (Three unrelated families reported with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 1 Sep 2018) Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.17 | MRPS34 | Sarah Leigh Classified gene: MRPS34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.17 | MRPS34 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.17 | MRPS34 | Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.16 | MRPS34 |
Sarah Leigh gene: MRPS34 was added gene: MRPS34 was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32 617664 Review for gene: MRPS34 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases. (Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 30 Aug 2018) Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Classified gene: FDXR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.14 | FDXR |
Sarah Leigh gene: FDXR was added gene: FDXR was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy 617717 Review for gene: FDXR was set to GREEN Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.13 | C1QBP | Sarah Leigh Classified gene: C1QBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.13 | C1QBP | Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.12 | C1QBP |
Sarah Leigh gene: C1QBP was added gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33 617713 Review for gene: C1QBP was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases. Sources: Literature, Expert Review |
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Likely inborn error of metabolism - targeted testing not possible v0.9 | Louise Daugherty List of related panels changed from Likely inborn error of metabolism - targeted testing not possible; GMS R98 to Likely inborn error of metabolism - targeted testing not possible | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.7 | GALNT12 | Ellen McDonagh Mode of inheritance for gene: GALNT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA-37440-Loss |
Ellen McDonagh Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | WARS2 |
Ellen McDonagh gene: WARS2 was added gene: WARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: WARS2 was set to Unknown Phenotypes for gene: WARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VPS13C |
Ellen McDonagh gene: VPS13C was added gene: VPS13C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: VPS13C was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRH |
Ellen McDonagh gene: UQCRH was added gene: UQCRH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRH was set to Unknown Phenotypes for gene: UQCRH were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRFS1 |
Ellen McDonagh gene: UQCRFS1 was added gene: UQCRFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRFS1 was set to Unknown Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRC2 |
Ellen McDonagh gene: UQCRC2 was added gene: UQCRC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRC2 was set to Unknown Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRC1 |
Ellen McDonagh gene: UQCRC1 was added gene: UQCRC1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRC1 was set to Unknown Phenotypes for gene: UQCRC1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCC3 |
Ellen McDonagh gene: UQCC3 was added gene: UQCC3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCC3 was set to Unknown Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type, 616111; Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCC2 |
Ellen McDonagh gene: UQCC2 was added gene: UQCC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCC2 was set to Unknown Phenotypes for gene: UQCC2 were set to Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMT10C |
Ellen McDonagh gene: TRMT10C was added gene: TRMT10C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT10C was set to Unknown Phenotypes for gene: TRMT10C were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRIT1 |
Ellen McDonagh gene: TRIT1 was added gene: TRIT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRIT1 was set to Unknown Phenotypes for gene: TRIT1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAP1 |
Ellen McDonagh gene: TRAP1 was added gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAP1 was set to Unknown Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TIMM44 |
Ellen McDonagh gene: TIMM44 was added gene: TIMM44 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TIMM44 was set to Unknown Phenotypes for gene: TIMM44 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SRRT |
Ellen McDonagh gene: SRRT was added gene: SRRT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SRRT was set to Unknown Phenotypes for gene: SRRT were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A42 |
Ellen McDonagh gene: SLC25A42 was added gene: SLC25A42 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A42 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A40 |
Ellen McDonagh gene: SLC25A40 was added gene: SLC25A40 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A40 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SFXN4 |
Ellen McDonagh gene: SFXN4 was added gene: SFXN4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SFXN4 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RTN4IP1 |
Ellen McDonagh gene: RTN4IP1 was added gene: RTN4IP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: RTN4IP1 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | QRSL1 |
Ellen McDonagh gene: QRSL1 was added gene: QRSL1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: QRSL1 was set to Unknown Phenotypes for gene: QRSL1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | QARS |
Ellen McDonagh gene: QARS was added gene: QARS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: QARS was set to Unknown Phenotypes for gene: QARS were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PTCD1 |
Ellen McDonagh gene: PTCD1 was added gene: PTCD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PTCD1 was set to Unknown Phenotypes for gene: PTCD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POP1 |
Ellen McDonagh gene: POP1 was added gene: POP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: POP1 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPLA8 |
Ellen McDonagh gene: PNPLA8 was added gene: PNPLA8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNPLA8 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPLA4 |
Ellen McDonagh gene: PNPLA4 was added gene: PNPLA4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNPLA4 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OXA1L |
Ellen McDonagh gene: OXA1L was added gene: OXA1L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OXA1L was set to Unknown Phenotypes for gene: OXA1L were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NNT |
Ellen McDonagh gene: NNT was added gene: NNT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NNT was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NFS1 |
Ellen McDonagh gene: NFS1 was added gene: NFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NFS1 was set to Unknown Phenotypes for gene: NFS1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS5 |
Ellen McDonagh gene: NDUFS5 was added gene: NDUFS5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFS5 was set to Unknown Phenotypes for gene: NDUFS5 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFC2 |
Ellen McDonagh gene: NDUFC2 was added gene: NDUFC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFC2 was set to Unknown Phenotypes for gene: NDUFC2 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFC1 |
Ellen McDonagh gene: NDUFC1 was added gene: NDUFC1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFC1 was set to Unknown Phenotypes for gene: NDUFC1 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB8 |
Ellen McDonagh gene: NDUFB8 was added gene: NDUFB8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB8 was set to Unknown Phenotypes for gene: NDUFB8 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB7 |
Ellen McDonagh gene: NDUFB7 was added gene: NDUFB7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB7 was set to Unknown Phenotypes for gene: NDUFB7 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB6 |
Ellen McDonagh gene: NDUFB6 was added gene: NDUFB6 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB6 was set to Unknown Phenotypes for gene: NDUFB6 were set to Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB5 |
Ellen McDonagh gene: NDUFB5 was added gene: NDUFB5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB5 was set to Unknown Phenotypes for gene: NDUFB5 were set to Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB4 |
Ellen McDonagh gene: NDUFB4 was added gene: NDUFB4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB4 was set to Unknown Phenotypes for gene: NDUFB4 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB2 |
Ellen McDonagh gene: NDUFB2 was added gene: NDUFB2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB2 was set to Unknown Phenotypes for gene: NDUFB2 were set to Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB10 |
Ellen McDonagh gene: NDUFB10 was added gene: NDUFB10 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB10 was set to Unknown Phenotypes for gene: NDUFB10 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB1 |
Ellen McDonagh gene: NDUFB1 was added gene: NDUFB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB1 was set to Unknown Phenotypes for gene: NDUFB1 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAB1 |
Ellen McDonagh gene: NDUFAB1 was added gene: NDUFAB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFAB1 was set to Unknown Phenotypes for gene: NDUFAB1 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA8 |
Ellen McDonagh gene: NDUFA8 was added gene: NDUFA8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA7 |
Ellen McDonagh gene: NDUFA7 was added gene: NDUFA7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA7 was set to Unknown Phenotypes for gene: NDUFA7 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA6 |
Ellen McDonagh gene: NDUFA6 was added gene: NDUFA6 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA6 was set to Unknown Phenotypes for gene: NDUFA6 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA5 |
Ellen McDonagh gene: NDUFA5 was added gene: NDUFA5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA5 was set to Unknown Phenotypes for gene: NDUFA5 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA4 |
Ellen McDonagh gene: NDUFA4 was added gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA4 was set to Unknown Publications for gene: NDUFA4 were set to PMID: 23746447 Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA3 |
Ellen McDonagh gene: NDUFA3 was added gene: NDUFA3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA3 was set to Unknown Phenotypes for gene: NDUFA3 were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAXE |
Ellen McDonagh gene: NAXE was added gene: NAXE was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAXE was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NADK2 |
Ellen McDonagh gene: NADK2 was added gene: NADK2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NADK2 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS7 |
Ellen McDonagh gene: MRPS7 was added gene: MRPS7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS7 was set to Unknown Phenotypes for gene: MRPS7 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS2 |
Ellen McDonagh gene: MRPS2 was added gene: MRPS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS2 was set to Unknown Phenotypes for gene: MRPS2 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL44 |
Ellen McDonagh gene: MRPL44 was added gene: MRPL44 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL44 was set to Unknown Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL40 |
Ellen McDonagh gene: MRPL40 was added gene: MRPL40 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL40 was set to Unknown Phenotypes for gene: MRPL40 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL12 |
Ellen McDonagh gene: MRPL12 was added gene: MRPL12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL12 was set to Unknown Phenotypes for gene: MRPL12 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPC1 |
Ellen McDonagh gene: MPC1 was added gene: MPC1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MPC1 was set to Unknown Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, 614741 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MICU1 |
Ellen McDonagh gene: MICU1 was added gene: MICU1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MICU1 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MECR |
Ellen McDonagh gene: MECR was added gene: MECR was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MECR was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LYRM7 |
Ellen McDonagh gene: LYRM7 was added gene: LYRM7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LYRM7 was set to Unknown Phenotypes for gene: LYRM7 were set to Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LYRM4 |
Ellen McDonagh gene: LYRM4 was added gene: LYRM4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LYRM4 was set to Unknown Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LETM1 |
Ellen McDonagh gene: LETM1 was added gene: LETM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LETM1 was set to Unknown Phenotypes for gene: LETM1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARS |
Ellen McDonagh gene: LARS was added gene: LARS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LARS was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LACTB |
Ellen McDonagh gene: LACTB was added gene: LACTB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LACTB was set to Unknown Phenotypes for gene: LACTB were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDH3B |
Ellen McDonagh gene: IDH3B was added gene: IDH3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: IDH3B was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM2 |
Ellen McDonagh gene: GFM2 was added gene: GFM2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GFM2 was set to Unknown Phenotypes for gene: GFM2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATC |
Ellen McDonagh gene: GATC was added gene: GATC was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GATC was set to Unknown Phenotypes for gene: GATC were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATB |
Ellen McDonagh gene: GATB was added gene: GATB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GATB was set to Unknown Phenotypes for gene: GATB were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ERCC6L2 |
Ellen McDonagh gene: ERCC6L2 was added gene: ERCC6L2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ERCC6L2 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ECSIT |
Ellen McDonagh gene: ECSIT was added gene: ECSIT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ECSIT was set to Unknown Phenotypes for gene: ECSIT were set to No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DTD1 |
Ellen McDonagh gene: DTD1 was added gene: DTD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DTD1 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM2 |
Ellen McDonagh gene: DNM2 was added gene: DNM2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DNM2 was set to Unknown Phenotypes for gene: DNM2 were set to Disorders of mitochondrial DNA maintenance and integrity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7C |
Ellen McDonagh gene: COX7C was added gene: COX7C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7C was set to Unknown Phenotypes for gene: COX7C were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7B2 |
Ellen McDonagh gene: COX7B2 was added gene: COX7B2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7B2 was set to Unknown Phenotypes for gene: COX7B2 were set to ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7A2 |
Ellen McDonagh gene: COX7A2 was added gene: COX7A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7A2 was set to Unknown Phenotypes for gene: COX7A2 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7A1 |
Ellen McDonagh gene: COX7A1 was added gene: COX7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX7A1 was set to Unknown Phenotypes for gene: COX7A1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6C |
Ellen McDonagh gene: COX6C was added gene: COX6C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX6C was set to Unknown Phenotypes for gene: COX6C were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX5B |
Ellen McDonagh gene: COX5B was added gene: COX5B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX5B was set to Unknown Phenotypes for gene: COX5B were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX5A |
Ellen McDonagh gene: COX5A was added gene: COX5A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX5A was set to Unknown Phenotypes for gene: COX5A were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX4I1 |
Ellen McDonagh gene: COX4I1 was added gene: COX4I1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I1 was set to Unknown Phenotypes for gene: COX4I1 were set to Mitochondrial Diseases; No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA1 |
Ellen McDonagh gene: COA1 was added gene: COA1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COA1 was set to Unknown Phenotypes for gene: COA1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA2 |
Ellen McDonagh gene: BOLA2 was added gene: BOLA2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BOLA2 was set to Unknown Phenotypes for gene: BOLA2 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA1 |
Ellen McDonagh gene: BOLA1 was added gene: BOLA1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BOLA1 was set to Unknown Phenotypes for gene: BOLA1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH1B1 |
Ellen McDonagh gene: ALDH1B1 was added gene: ALDH1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALDH1B1 was set to Unknown Phenotypes for gene: ALDH1B1 were set to No OMIM phenotype; Succinic semialdehyde dehydrogenase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | WDR45 |
Ellen McDonagh gene: WDR45 was added gene: WDR45 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 27604308 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STS |
Ellen McDonagh gene: STS was added gene: STS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STS were set to 27604308 Phenotypes for gene: STS were set to X-linked ichthyosis (Other disorders in the metabolism of sterols); Autosomal recessive congenital ichthyosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A2 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2 Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A2 |
Ellen McDonagh gene: SLC35A2 was added gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to 27604308 Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRPS1 |
Ellen McDonagh gene: PRPS1 was added gene: PRPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to 27604308 Phenotypes for gene: PRPS1 were set to Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK3 |
Ellen McDonagh Added phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK3 Publications for gene PDK3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK3 |
Ellen McDonagh gene: PDK3 was added gene: PDK3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHA1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1 Publications for gene PDHA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHA1 |
Ellen McDonagh gene: PDHA1 was added gene: PDHA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to Leigh syndrome, X-linked, 308930; Pyruvate dehydrogenase E1-alpha deficiency, 312170 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OTC |
Ellen McDonagh gene: OTC was added gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 27604308 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NSDHL |
Ellen McDonagh gene: NSDHL was added gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 27604308 Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB11 | Ellen McDonagh Added phenotypes histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency for gene: NDUFB11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB11 |
Ellen McDonagh gene: NDUFB11 was added gene: NDUFB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LAMP2 |
Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27604308 Phenotypes for gene: LAMP2 were set to Danon disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B10 |
Ellen McDonagh gene: HSD17B10 was added gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HSD17B10 were set to 27604308 Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HCCS |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS Publications for gene HCCS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HCCS |
Ellen McDonagh gene: HCCS was added gene: HCCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLA |
Ellen McDonagh gene: GLA was added gene: GLA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 27604308 Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry Disease; Fabry disease (Sphingolipidoses); Fabry disease, 301500 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GK |
Ellen McDonagh gene: GK was added gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GK were set to 27604308 Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EBP |
Ellen McDonagh gene: EBP was added gene: EBP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 27604308 Phenotypes for gene: EBP were set to MEND syndrome 300960 XLR; Chondrodysplasia punctata, X-linked dominant 302960 XLD; X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7B |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS for gene: COX7B Publications for gene COX7B were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7B |
Ellen McDonagh gene: COX7B was added gene: COX7B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies; Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13 Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh gene: ALG13 was added gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 27604308 Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALAS2 |
Ellen McDonagh gene: ALAS2 was added gene: ALAS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALAS2 were set to 27604308 Phenotypes for gene: ALAS2 were set to Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCD1 |
Ellen McDonagh gene: ABCD1 was added gene: ABCD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCD1 were set to 27604308 Phenotypes for gene: ABCD1 were set to X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation); Adrenoleukodystrophy 300100 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7 Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh gene: ABCB7 was added gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCB7 were set to PMID: 26242992; 17192398; 22398176 Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TIMM8A |
Ellen McDonagh Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A Publications for gene TIMM8A were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TIMM8A |
Ellen McDonagh gene: TIMM8A was added gene: TIMM8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TAZ |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Disorders of mitochondrial lipid metabolism for gene: TAZ Publications for gene TAZ were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TAZ |
Ellen McDonagh gene: TAZ was added gene: TAZ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Disorders of mitochondrial lipid metabolism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SSR4 | Ellen McDonagh Added phenotypes ?Congenital disorder of glycosylation, type Iy 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SSR4 |
Ellen McDonagh gene: SSR4 was added gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 26264460 Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A8 |
Ellen McDonagh gene: SLC6A8 was added gene: SLC6A8 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308 Phenotypes for gene: SLC6A8 were set to Intellectual disability; Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RPL10 |
Ellen McDonagh gene: RPL10 was added gene: RPL10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGA |
Ellen McDonagh Added phenotypes PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 for gene: PIGA Publications for gene PIGA were changed from 25885527 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGA |
Ellen McDonagh gene: PIGA was added gene: PIGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 25885527 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA2 |
Ellen McDonagh gene: PHKA2 was added gene: PHKA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to 27604308 Phenotypes for gene: PHKA2 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease, type IXa2, 306000; Glycogen storage disease, type IXa1, 306000; hepatomegaly and mild hypoglycaemia; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA1 |
Ellen McDonagh gene: PHKA1 was added gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGK1 |
Ellen McDonagh gene: PGK1 was added gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 27604308 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OCRL |
Ellen McDonagh gene: OCRL was added gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 27604308 Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAOA |
Ellen McDonagh gene: MAOA was added gene: MAOA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAOA were set to 27604308 Phenotypes for gene: MAOA were set to Brunner syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAGT1 |
Ellen McDonagh Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) for gene: MAGT1 Publications for gene MAGT1 were changed from 27604308 to 27604308; 27393411 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAGT1 |
Ellen McDonagh gene: MAGT1 was added gene: MAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 27604308 Phenotypes for gene: MAGT1 were set to Combined B and T cell defect; IAP-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDS |
Ellen McDonagh gene: IDS was added gene: IDS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 27604308 Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2; MPS II, Hunter disease (Mucopolysaccharidoses); Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPRT1 |
Ellen McDonagh gene: HPRT1 was added gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 27604308 Phenotypes for gene: HPRT1 were set to HPRT-related gout |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HCFC1 |
Ellen McDonagh gene: HCFC1 was added gene: HCFC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP7A |
Ellen McDonagh gene: ATP7A was added gene: ATP7A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6AP1 |
Ellen McDonagh Added phenotypes Immunodeficiency 47 for gene: ATP6AP1 Publications for gene ATP6AP1 were changed from to 27231034 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6AP1 |
Ellen McDonagh gene: ATP6AP1 was added gene: ATP6AP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSE |
Ellen McDonagh gene: ARSE was added gene: ARSE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive 302950 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1 Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327 Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | USF1 |
Ellen McDonagh gene: USF1 was added gene: USF1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: USF1 was set to Unknown Publications for gene: USF1 were set to 27604308 Phenotypes for gene: USF1 were set to Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TREH |
Ellen McDonagh gene: TREH was added gene: TREH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TREH was set to Unknown Publications for gene: TREH were set to 27604308 Phenotypes for gene: TREH were set to Trehalase deficiency (Other carbohydrate disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TDO2 |
Ellen McDonagh gene: TDO2 was added gene: TDO2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TDO2 was set to Unknown Publications for gene: TDO2 were set to 27604308 Phenotypes for gene: TDO2 were set to No OMIM number; Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TARS2 |
Ellen McDonagh gene: TARS2 was added gene: TARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TARS2 was set to Unknown Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither. Phenotypes for gene: TARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG2 | Ellen McDonagh Added phenotypes No OMIM phenotype for gene: SUCLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG2 |
Ellen McDonagh gene: SUCLG2 was added gene: SUCLG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SUCLG2 was set to Unknown Publications for gene: SUCLG2 were set to 27604308 Phenotypes for gene: SUCLG2 were set to Succinyl-CoA synthetase deficiency (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A2 |
Ellen McDonagh gene: SLC25A2 was added gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A2 was set to Unknown Publications for gene: SLC25A2 were set to 27604308 Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC22A4 |
Ellen McDonagh gene: SLC22A4 was added gene: SLC22A4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC22A4 was set to Unknown Publications for gene: SLC22A4 were set to 24816252 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PTPRZ1 |
Ellen McDonagh gene: PTPRZ1 was added gene: PTPRZ1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PTPRZ1 was set to Unknown Publications for gene: PTPRZ1 were set to 27604308 Phenotypes for gene: PTPRZ1 were set to Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); {H. pylori infection, susceptibility to} 600263 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPM1K |
Ellen McDonagh gene: PPM1K was added gene: PPM1K was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1K was set to Unknown Phenotypes for gene: PPM1K were set to ?Maple syrup urine disease, mild variant 615135 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKG1 |
Ellen McDonagh gene: PHKG1 was added gene: PHKG1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PHKG1 was set to Unknown |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX11A |
Ellen McDonagh gene: PEX11A was added gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PEX11A was set to Unknown Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773 Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDXK |
Ellen McDonagh gene: PDXK was added gene: PDXK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDXK was set to Unknown Publications for gene: PDXK were set to 27604308 Phenotypes for gene: PDXK were set to Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK4 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK4 Publications for gene PDK4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK4 |
Ellen McDonagh gene: PDK4 was added gene: PDK4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK4 was set to Unknown Phenotypes for gene: PDK4 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK2 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK2 Publications for gene PDK2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK2 |
Ellen McDonagh gene: PDK2 was added gene: PDK2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK2 was set to Unknown Phenotypes for gene: PDK2 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK1 Publications for gene PDK1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK1 |
Ellen McDonagh gene: PDK1 was added gene: PDK1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK1 was set to Unknown Phenotypes for gene: PDK1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OGDH | Ellen McDonagh Added phenotypes Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) for gene: OGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | OGDH |
Ellen McDonagh gene: OGDH was added gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OGDH was set to Unknown Publications for gene: OGDH were set to 27604308 Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NT5C |
Ellen McDonagh gene: NT5C was added gene: NT5C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NT5C was set to Unknown Publications for gene: NT5C were set to 27604308 Phenotypes for gene: NT5C were set to Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV3 |
Ellen McDonagh gene: NDUFV3 was added gene: NDUFV3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFV3 was set to Unknown Phenotypes for gene: NDUFV3 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HYKK |
Ellen McDonagh gene: HYKK was added gene: HYKK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HYKK was set to Unknown Publications for gene: HYKK were set to 27604308 Phenotypes for gene: HYKK were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLS | Ellen McDonagh Added phenotypes Glucosidase 1 deficiency (Disorders of protein N-glycosylation) for gene: GLS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | GLS |
Ellen McDonagh gene: GLS was added gene: GLS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GLS was set to Unknown Publications for gene: GLS were set to 27604308 Phenotypes for gene: GLS were set to Glucosidase 1 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GGT1 |
Ellen McDonagh gene: GGT1 was added gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GGT1 was set to Unknown Publications for gene: GGT1 were set to 27604308; 24816252 Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT12 |
Ellen McDonagh Mode of inheritance for gene GALNT12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown Added phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)); GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 for gene: GALNT12 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR3 |
Ellen McDonagh gene: FOLR3 was added gene: FOLR3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FOLR3 was set to Unknown Publications for gene: FOLR3 were set to 8110752 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR2 |
Ellen McDonagh gene: FOLR2 was added gene: FOLR2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FOLR2 was set to Unknown Publications for gene: FOLR2 were set to 14711912; 19587340 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FDX2 |
Ellen McDonagh gene: FDX2 was added gene: FDX2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FDX2 was set to Unknown Phenotypes for gene: FDX2 were set to No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FBP2 |
Ellen McDonagh gene: FBP2 was added gene: FBP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FBP2 was set to Unknown Phenotypes for gene: FBP2 were set to isolated lactic acidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPEP1 |
Ellen McDonagh gene: DPEP1 was added gene: DPEP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DPEP1 was set to Unknown Publications for gene: DPEP1 were set to 27604308 Phenotypes for gene: DPEP1 were set to Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DMGDH |
Ellen McDonagh gene: DMGDH was added gene: DMGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DMGDH was set to Unknown Publications for gene: DMGDH were set to 27604308; 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity; 11231903 - case study Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency 605850; Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLST | Ellen McDonagh Added phenotypes No OMIM phenotype?Familial Alzheimer disease for gene: DLST | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DLST |
Ellen McDonagh gene: DLST was added gene: DLST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DLST was set to Unknown Publications for gene: DLST were set to 27604308; 12805207; 1943690 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHFR2 |
Ellen McDonagh gene: DHFR2 was added gene: DHFR2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DHFR2 was set to Unknown Publications for gene: DHFR2 were set to 21876184 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CNDP1 |
Ellen McDonagh gene: CNDP1 was added gene: CNDP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CNDP1 was set to Unknown Publications for gene: CNDP1 were set to 27604308 Phenotypes for gene: CNDP1 were set to Carnosinaemia (Other disorders of peptide metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPS |
Ellen McDonagh gene: CLPS was added gene: CLPS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CLPS was set to Unknown Publications for gene: CLPS were set to 27604308 Phenotypes for gene: CLPS were set to Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CD320 |
Ellen McDonagh gene: CD320 was added gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CD320 was set to Unknown Publications for gene: CD320 were set to 27604308; 20524213 Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCAT2 |
Ellen McDonagh gene: BCAT2 was added gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT2 was set to Unknown Publications for gene: BCAT2 were set to 27604308 Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCAT1 |
Ellen McDonagh gene: BCAT1 was added gene: BCAT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT1 was set to Unknown Publications for gene: BCAT1 were set to 27604308 Phenotypes for gene: BCAT1 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5O |
Ellen McDonagh gene: ATP5O was added gene: ATP5O was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5O was set to Unknown Phenotypes for gene: ATP5O were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5J |
Ellen McDonagh gene: ATP5J was added gene: ATP5J was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5J was set to Unknown Phenotypes for gene: ATP5J were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5I |
Ellen McDonagh gene: ATP5I was added gene: ATP5I was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5I was set to Unknown Phenotypes for gene: ATP5I were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5G3 |
Ellen McDonagh gene: ATP5G3 was added gene: ATP5G3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5G3 was set to Unknown Phenotypes for gene: ATP5G3 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5G2 |
Ellen McDonagh gene: ATP5G2 was added gene: ATP5G2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5G2 was set to Unknown Phenotypes for gene: ATP5G2 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5G1 |
Ellen McDonagh gene: ATP5G1 was added gene: ATP5G1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5G1 was set to Unknown Phenotypes for gene: ATP5G1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5E |
Ellen McDonagh Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E Publications for gene ATP5E were changed from 27604308 to PMID: 20566710 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5E |
Ellen McDonagh gene: ATP5E was added gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5E was set to Unknown Publications for gene: ATP5E were set to 27604308 Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5C1 |
Ellen McDonagh gene: ATP5C1 was added gene: ATP5C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5C1 was set to Unknown Phenotypes for gene: ATP5C1 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5B |
Ellen McDonagh gene: ATP5B was added gene: ATP5B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5B was set to Unknown Phenotypes for gene: ATP5B were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATAD3B |
Ellen McDonagh gene: ATAD3B was added gene: ATAD3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATAD3B was set to Unknown Phenotypes for gene: ATAD3B were set to Influence on AIDS progression; No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSG |
Ellen McDonagh gene: ARSG was added gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ARSG was set to Unknown Publications for gene: ARSG were set to 26975023; 20679209; 25452429 Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AOX1 |
Ellen McDonagh gene: AOX1 was added gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AOX1 was set to Unknown Publications for gene: AOX1 were set to 27604308 Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG2 |
Ellen McDonagh gene: ABCG2 was added gene: ABCG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ABCG2 was set to Unknown Publications for gene: ABCG2 were set to 27604308 Phenotypes for gene: ABCG2 were set to Primary idiopathic gout (Disorders of purine metabolism); [Junior blood group system] 614490; [Uric acid concentration, serum, QTL1] 138900 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1 Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments Publications for gene: C1GALT1C1 were set to 27604308 Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UMOD |
Ellen McDonagh gene: UMOD was added gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 27604308 Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPTLC2 |
Ellen McDonagh gene: SPTLC2 was added gene: SPTLC2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 27604308 Phenotypes for gene: SPTLC2 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC52A1 |
Ellen McDonagh gene: SLC52A1 was added gene: SLC52A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC52A1 were set to 21089064 Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency 615026 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC40A1 |
Ellen McDonagh gene: SLC40A1 was added gene: SLC40A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC40A1 were set to 27604308; 11518736; 11431687; 10471458 Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069 (Disorder of iron metabolism); Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHC | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHC |
Ellen McDonagh gene: SDHC was added gene: SDHC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHC were set to 27604308 Phenotypes for gene: SDHC were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRKAG2 |
Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 27604308 Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPI |
Ellen McDonagh gene: LIPI was added gene: LIPI was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIPI were set to 27604308 Phenotypes for gene: LIPI were set to {Hypertriglyceridemia, susceptibility to}, 145750; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDLR |
Ellen McDonagh gene: LDLR was added gene: LDLR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 27604308 Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 27604308 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAL |
Ellen McDonagh gene: HAL was added gene: HAL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HAL were set to 27604308 Phenotypes for gene: HAL were set to Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUD1 | Ellen McDonagh Added phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 for gene: GLUD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUD1 |
Ellen McDonagh gene: GLUD1 was added gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 27604308 Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GARS | Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA for gene: GARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | GARS |
Ellen McDonagh gene: GARS was added gene: GARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GARS were set to Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT12 |
Ellen McDonagh gene: GALNT12 was added gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GALNT12 were set to 27604308 Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GABRG2 |
Ellen McDonagh gene: GABRG2 was added gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642 Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC5 |
Ellen McDonagh gene: DNAJC5 was added gene: DNAJC5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNA2 | Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6; 615156; Disorders of mitochondrial DNA maintenance and integrity for gene: DNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DNA2 |
Ellen McDonagh gene: DNA2 was added gene: DNA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6; 615156; Disorders of mitochondrial DNA maintenance and integrity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYCS |
Ellen McDonagh gene: CYCS was added gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYCS were set to 24326104; PMID: 18345000 Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHCHD10 | Ellen McDonagh Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type for gene: CHCHD10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CHCHD10 |
Ellen McDonagh gene: CHCHD10 was added gene: CHCHD10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHCHD10 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Spinal muscular atrophy, Jokela type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CETP |
Ellen McDonagh gene: CETP was added gene: CETP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CETP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CETP were set to 27604308 Phenotypes for gene: CETP were set to [High density lipoprotein cholesterol level QTL 10] 143470; Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism); Hyperalphalipoproteinemia 143470 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATXN7 |
Ellen McDonagh gene: ATXN7 was added gene: ATXN7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN7 were set to 27604308 Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOB |
Ellen McDonagh gene: APOB was added gene: APOB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOB were set to 27604308 Phenotypes for gene: APOB were set to Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROD |
Ellen McDonagh gene: UROD was added gene: UROD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UROD were set to 27604308 Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TM6SF2 |
Ellen McDonagh gene: TM6SF2 was added gene: TM6SF2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TM6SF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TM6SF2 were set to 28235613 Phenotypes for gene: TM6SF2 were set to non-alcoholic fatty liver disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A4 | Ellen McDonagh Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SDHAF2 were set to 27604308 Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RANBP2 |
Ellen McDonagh gene: RANBP2 was added gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 27604308 Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG2 |
Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions for gene: POLG2 Publications for gene POLG2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG2 |
Ellen McDonagh gene: POLG2 was added gene: POLG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDH2 |
Ellen McDonagh gene: IDH2 was added gene: IDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH2 were set to 24049096; 20847235 Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2, 613657 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FXYD2 |
Ellen McDonagh gene: FXYD2 was added gene: FXYD2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FXYD2 were set to 27604308 Phenotypes for gene: FXYD2 were set to Hypomagnesemia 2, renal 154020; Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TY |
Ellen McDonagh gene: MT-TY was added gene: MT-TY was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TW |
Ellen McDonagh gene: MT-TW was added gene: MT-TW was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TV |
Ellen McDonagh gene: MT-TV was added gene: MT-TV was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TT |
Ellen McDonagh gene: MT-TT was added gene: MT-TT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TS2 |
Ellen McDonagh gene: MT-TS2 was added gene: MT-TS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TS1 |
Ellen McDonagh gene: MT-TS1 was added gene: MT-TS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TR |
Ellen McDonagh gene: MT-TR was added gene: MT-TR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TQ |
Ellen McDonagh gene: MT-TQ was added gene: MT-TQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TP |
Ellen McDonagh gene: MT-TP was added gene: MT-TP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TN |
Ellen McDonagh gene: MT-TN was added gene: MT-TN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TM |
Ellen McDonagh gene: MT-TM was added gene: MT-TM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TL2 |
Ellen McDonagh gene: MT-TL2 was added gene: MT-TL2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TL1 |
Ellen McDonagh gene: MT-TL1 was added gene: MT-TL1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TK |
Ellen McDonagh gene: MT-TK was added gene: MT-TK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TI |
Ellen McDonagh gene: MT-TI was added gene: MT-TI was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TH |
Ellen McDonagh gene: MT-TH was added gene: MT-TH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TG |
Ellen McDonagh gene: MT-TG was added gene: MT-TG was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TF |
Ellen McDonagh gene: MT-TF was added gene: MT-TF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TE | Ellen McDonagh Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT for gene: MT-TE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TE |
Ellen McDonagh gene: MT-TE was added gene: MT-TE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL Phenotypes for gene: MT-TE were set to MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; DIABETES AND DEAFNESS, MATERNALLY INHERITED; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TD | Ellen McDonagh Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TD |
Ellen McDonagh gene: MT-TD was added gene: MT-TD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL Phenotypes for gene: MT-TD were set to MITOCHONDRIAL MYOPATHY, ISOLATED |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TC | Ellen McDonagh Added phenotypes MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL for gene: MT-TC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TC |
Ellen McDonagh gene: MT-TC was added gene: MT-TC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL Phenotypes for gene: MT-TC were set to MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TA | Ellen McDonagh Added phenotypes MITOCHONDRIAL MYOPATHY; MYOTONIC DYSTROPHY-LIKE MYOPATHY for gene: MT-TA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-TA |
Ellen McDonagh gene: MT-TA was added gene: MT-TA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL Phenotypes for gene: MT-TA were set to MITOCHONDRIAL MYOPATHY; MYOTONIC DYSTROPHY-LIKE MYOPATHY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-RNR2 |
Ellen McDonagh gene: MT-RNR2 was added gene: MT-RNR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-RNR1 | Ellen McDonagh Added phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-RNR1 |
Ellen McDonagh gene: MT-RNR1 was added gene: MT-RNR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to DEAFNESS, AMINOGLYCOSIDE-INDUCED; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; CARDIOMYOPATHY, RESTRICTIVE |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND6 | Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND6 |
Ellen McDonagh gene: MT-ND6 was added gene: MT-ND6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to LEBER OPTIC ATROPHY AND DYSTONIA; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; MELAS SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND5 | Ellen McDonagh Added phenotypes MELAS SYNDROME; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND5 |
Ellen McDonagh gene: MT-ND5 was added gene: MT-ND5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND5 were set to MELAS SYNDROME; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND4L | Ellen McDonagh Added phenotypes LEBER OPTIC ATROPHY for gene: MT-ND4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND4L |
Ellen McDonagh gene: MT-ND4L was added gene: MT-ND4L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4L were set to LEBER OPTIC ATROPHY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND4 | Ellen McDonagh Added phenotypes MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND4 |
Ellen McDonagh gene: MT-ND4 was added gene: MT-ND4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND3 | Ellen McDonagh Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND3 |
Ellen McDonagh gene: MT-ND3 was added gene: MT-ND3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND3 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND2 | Ellen McDonagh Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND2 |
Ellen McDonagh gene: MT-ND2 was added gene: MT-ND2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND2 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND1 | Ellen McDonagh Added phenotypes MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL for gene: MT-ND1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ND1 |
Ellen McDonagh gene: MT-ND1 was added gene: MT-ND1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CYB | Ellen McDonagh Added phenotypes CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY for gene: MT-CYB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CYB |
Ellen McDonagh gene: MT-CYB was added gene: MT-CYB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL Phenotypes for gene: MT-CYB were set to CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER; EXERCISE INTOLERANCE; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; PARKINSONISM/MELAS OVERLAP SYNDROME; LEBER OPTIC ATROPHY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO3 |
Ellen McDonagh gene: MT-CO3 was added gene: MT-CO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO2 | Ellen McDonagh Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO2 |
Ellen McDonagh gene: MT-CO2 was added gene: MT-CO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO2 were set to CYTOCHROME c OXIDASE DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO1 | Ellen McDonagh Added phenotypes CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO1 |
Ellen McDonagh gene: MT-CO1 was added gene: MT-CO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO1 were set to CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ATP8 | Ellen McDonagh Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC for gene: MT-ATP8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ATP8 |
Ellen McDonagh gene: MT-ATP8 was added gene: MT-ATP8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP8 were set to BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-ATP6 |
Ellen McDonagh gene: MT-ATP6 was added gene: MT-ATP6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | WFS1 |
Ellen McDonagh gene: WFS1 was added gene: WFS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27604308 Phenotypes for gene: WFS1 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TWNK | Ellen McDonagh Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TWNK |
Ellen McDonagh gene: TWNK was added gene: TWNK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 27604308 Phenotypes for gene: TWNK were set to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TREX1 |
Ellen McDonagh gene: TREX1 was added gene: TREX1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 27604308 Phenotypes for gene: TREX1 were set to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPTLC1 |
Ellen McDonagh gene: SPTLC1 was added gene: SPTLC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPTLC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTLC1 were set to 27604308 Phenotypes for gene: SPTLC1 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPG7 |
Ellen McDonagh Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7 Publications for gene SPG7 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPG7 |
Ellen McDonagh gene: SPG7 was added gene: SPG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A20 |
Ellen McDonagh gene: SLC6A20 was added gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A20 were set to 24816252; 19033659 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A19 |
Ellen McDonagh gene: SLC6A19 was added gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424 Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC36A2 |
Ellen McDonagh gene: SLC36A2 was added gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 27604308; 19033659 Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC2A1 |
Ellen McDonagh gene: SLC2A1 was added gene: SLC2A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 27604308 Phenotypes for gene: SLC2A1 were set to Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC16A1 |
Ellen McDonagh gene: SLC16A1 was added gene: SLC16A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC16A1 were set to 26608392; 17701893 Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SETX |
Ellen McDonagh gene: SETX was added gene: SETX was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SETX were set to 27604308 Phenotypes for gene: SETX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SEC23B |
Ellen McDonagh Added phenotypes Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) for gene: SEC23B Publications for gene SEC23B were changed from 27604308 to 22208203 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SEC23B |
Ellen McDonagh gene: SEC23B was added gene: SEC23B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 27604308 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCARB1 |
Ellen McDonagh gene: SCARB1 was added gene: SCARB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCARB1 were set to 27604308 Phenotypes for gene: SCARB1 were set to [High density lipoprotein cholesterol level QTL6] 610762; Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RYR1 |
Ellen McDonagh gene: RYR1 was added gene: RYR1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Rhabdomyolysis and metabolic muscle disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RRM2B | Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (recessive); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 for gene: RRM2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | RRM2B |
Ellen McDonagh gene: RRM2B was added gene: RRM2B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 27604308 Phenotypes for gene: RRM2B were set to 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RBP4 |
Ellen McDonagh gene: RBP4 was added gene: RBP4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 27604308 Phenotypes for gene: RBP4 were set to Retinol binding protein deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPOX |
Ellen McDonagh gene: PPOX was added gene: PPOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PPOX were set to 27604308; 19460837; 9811936 Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG |
Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive, 258450; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 for gene: POLG Publications for gene POLG were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG |
Ellen McDonagh gene: POLG was added gene: POLG was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal dominant, 157640; Progressive external ophthalmoplegia, autosomal recessive, 258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPLAH |
Ellen McDonagh gene: OPLAH was added gene: OPLAH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27604308 Phenotypes for gene: OPLAH were set to Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3 Publications for gene OPA3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFN2 |
Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 for gene: MFN2 Publications for gene MFN2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFN2 |
Ellen McDonagh gene: MFN2 was added gene: MFN2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAT1A |
Ellen McDonagh gene: MAT1A was added gene: MAT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 27604308 Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LPL |
Ellen McDonagh gene: LPL was added gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LPL were set to 27604308 Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LBR |
Ellen McDonagh gene: LBR was added gene: LBR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LBR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LBR were set to 27604308 Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPD |
Ellen McDonagh gene: HPD was added gene: HPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 27604308 Phenotypes for gene: HPD were set to Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GPHN |
Ellen McDonagh gene: GPHN was added gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLRA1 |
Ellen McDonagh gene: GLRA1 was added gene: GLRA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCH1 |
Ellen McDonagh gene: GCH1 was added gene: GCH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 27604308 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FGFR2 |
Ellen McDonagh gene: FGFR2 was added gene: FGFR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FGFR2 were set to 27604308 Phenotypes for gene: FGFR2 were set to Bilateral microtia; Deafness and congenital structural abnormalities; Craniosynostosis syndromes phenotypes; Arthrogryposis; Choanal atresia; Antley-Bixler syndrome type without disordered steroidogenesis; Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT2 |
Ellen McDonagh Added phenotypes Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); ?Seizures, scoliosis, and macrocephaly syndrome 616682 for gene: EXT2 Publications for gene EXT2 were changed from 27604308 to 12417417 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT2 |
Ellen McDonagh gene: EXT2 was added gene: EXT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EXT2 were set to 27604308 Phenotypes for gene: EXT2 were set to Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 2 133701; ?Seizures, scoliosis, and macrocephaly syndrome 616682 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh gene: DNM1L was added gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1L were set to 17460227; PMID: 26825290 Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHTKD1 | Ellen McDonagh Added phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 for gene: DHTKD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DHTKD1 |
Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308 Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPOX were set to 27604308 Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CNNM2 |
Ellen McDonagh gene: CNNM2 was added gene: CNNM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 27604308 Phenotypes for gene: CNNM2 were set to Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism); Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CAT |
Ellen McDonagh gene: CAT was added gene: CAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CAT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CAT were set to 27604308 Phenotypes for gene: CAT were set to Acatalasaemia (Other peroxisomal disorders); Acatalasemia, 614097 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP8B1 |
Ellen McDonagh gene: ATP8B1 was added gene: ATP8B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 27604308 Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 211600; Cholestasis, benign recurrent intrahepatic 243300 AR; Cholestasis, intrahepatic, of pregnancy, 1 147480 AD; Byler disease (Disorders of bile acid metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATAD3A |
Ellen McDonagh gene: ATAD3A was added gene: ATAD3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOE |
Ellen McDonagh gene: APOE was added gene: APOE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOE were set to 27604308; 24816252 Phenotypes for gene: APOE were set to Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias); Hyperlipoproteinemia, type III 617347; Sea-blue histiocyte disease 269600; Lipoprotein glomerulopathy 611771 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOA5 |
Ellen McDonagh gene: APOA5 was added gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA5 were set to 27604308 Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOA1 |
Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA1 were set to 27604308 Phenotypes for gene: APOA1 were set to Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 27604308; 12916015; 23001123 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB4 |
Ellen McDonagh gene: ABCB4 was added gene: ABCB4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCB4 were set to 27604308 Phenotypes for gene: ABCB4 were set to Gallbladder disease 1 600803 AD, AR; Cholestasis, progressive familial intrahepatic 3 602347 AR; Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport); Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VKORC1 |
Ellen McDonagh gene: VKORC1 was added gene: VKORC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: VKORC1 were set to 27604308 Phenotypes for gene: VKORC1 were set to Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC7A9 |
Ellen McDonagh gene: SLC7A9 was added gene: SLC7A9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 27604308; 24816252 Phenotypes for gene: SLC7A9 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC3A1 |
Ellen McDonagh gene: SLC3A1 was added gene: SLC3A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 27604308 Phenotypes for gene: SLC3A1 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport); Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA1 |
Ellen McDonagh Added phenotypes Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: OPA1 Publications for gene OPA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA1 |
Ellen McDonagh gene: OPA1 was added gene: OPA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA1 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA1 |
Ellen McDonagh gene: NDUFA1 was added gene: NDUFA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPD1 |
Ellen McDonagh Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1 Publications for gene HSPD1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPD1 |
Ellen McDonagh gene: HSPD1 was added gene: HSPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GDAP1 |
Ellen McDonagh Added phenotypes Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K for gene: GDAP1 Publications for gene GDAP1 were changed from 11743579 to PMID: 11743579 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GDAP1 |
Ellen McDonagh gene: GDAP1 was added gene: GDAP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 11743579 Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALPL |
Ellen McDonagh gene: ALPL was added gene: ALPL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPL were set to 27604308 Phenotypes for gene: ALPL were set to Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AFG3L2 |
Ellen McDonagh Added phenotypes Ataxia, spastic, 5, autosomal recessive, 614487; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity for gene: AFG3L2 Publications for gene AFG3L2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AFG3L2 |
Ellen McDonagh gene: AFG3L2 was added gene: AFG3L2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | YARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | YARS2 |
Ellen McDonagh gene: YARS2 was added gene: YARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT2 | Ellen McDonagh Added phenotypes Spondyloocular syndrome for gene: XYLT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT2 |
Ellen McDonagh gene: XYLT2 was added gene: XYLT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875; 26027496 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT1 | Ellen McDonagh Added phenotypes Desbuquois dysplasia 2 for gene: XYLT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT1 |
Ellen McDonagh gene: XYLT1 was added gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 23982343; 24581741 Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XPNPEP3 |
Ellen McDonagh gene: XPNPEP3 was added gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to PMID: 20179356 Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XDH |
Ellen McDonagh gene: XDH was added gene: XDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 27604308 Phenotypes for gene: XDH were set to Xanthinuria type II (Disorders of purine metabolism); Xanthinuria type I (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VPS33B |
Ellen McDonagh gene: VPS33B was added gene: VPS33B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 27604308 Phenotypes for gene: VPS33B were set to Inherited bleeding disorders; Unexplained kidney failure in young people; CAKUT; ARC Syndrome (Other metabolic disorders); Arthrogryposis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VIPAS39 |
Ellen McDonagh gene: VIPAS39 was added gene: VIPAS39 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 27604308 Phenotypes for gene: VIPAS39 were set to Inherited bleeding disorders; ARC Syndrome (Other metabolic disorders); Arthrogryposis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VARS2 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | VARS2 |
Ellen McDonagh gene: VARS2 was added gene: VARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 20, 615917 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROS |
Ellen McDonagh gene: UROS was added gene: UROS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 27604308 Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROC1 |
Ellen McDonagh gene: UROC1 was added gene: UROC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 27604308 Phenotypes for gene: UROC1 were set to Intellectual disability; Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRQ | Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: UQCRQ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRQ |
Ellen McDonagh gene: UQCRQ was added gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRQ were set to 27604308 Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: UQCRB Publications for gene UQCRB were changed from PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh gene: UQCRB was added gene: UQCRB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) Phenotypes for gene: UQCRB were set to Mitochondrial Diseases; Mitochondrial complex III deficiency, nuclear type 3, 615158; Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UPB1 |
Ellen McDonagh gene: UPB1 was added gene: UPB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 27604308 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UMPS |
Ellen McDonagh gene: UMPS was added gene: UMPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 27604308; 9042911 Phenotypes for gene: UMPS were set to Intellectual disability; Orotic aciduria; Orotic aciduria (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UGT1A1 |
Ellen McDonagh gene: UGT1A1 was added gene: UGT1A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 27604308; 24816252 Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I 218800; Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type II 606785 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TYMP | Ellen McDonagh Added phenotypes Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 for gene: TYMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 27604308; 24816252 Phenotypes for gene: TYMP were set to Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TXN2 |
Ellen McDonagh gene: TXN2 was added gene: TXN2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXN2 were set to PMID: 26626369 Phenotypes for gene: TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3 Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh gene: TUSC3 was added gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433 Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUFM |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUFM |
Ellen McDonagh gene: TUFM was added gene: TUFM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTPA |
Ellen McDonagh gene: TTPA was added gene: TTPA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTPA were set to 27604308 Phenotypes for gene: TTPA were set to TTP1 deficiency (Other disorders of vitamins and cofactors); Hereditary ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTC37 |
Ellen McDonagh gene: TTC37 was added gene: TTC37 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 27604308 Phenotypes for gene: TTC37 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 1 (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTC19 |
Ellen McDonagh Added phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19 Publications for gene TTC19 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTC19 |
Ellen McDonagh gene: TTC19 was added gene: TTC19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh gene: TSFM was added gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308; 25037205; 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRPM6 |
Ellen McDonagh gene: TRPM6 was added gene: TRPM6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to 27604308; 23942199; 12032570 Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal 602014; Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh Added phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis for gene: TRNT1 Publications for gene TRNT1 were changed from PMID: 26494905; PMID: 25652405 to 25652405; 26494905 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh gene: TRNT1 was added gene: TRNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to PMID: 26494905; PMID: 25652405 Phenotypes for gene: TRNT1 were set to congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMU |
Ellen McDonagh Added phenotypes {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Liver failure, transient infantile, 613070 for gene: TRMU Publications for gene TRMU were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMU |
Ellen McDonagh gene: TRMU was added gene: TRMU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Liver failure, transient infantile, 613070 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMT5 |
Ellen McDonagh gene: TRMT5 was added gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to PMID: 26189817 Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRIM37 |
Ellen McDonagh gene: TRIM37 was added gene: TRIM37 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM37 were set to 27604308 Phenotypes for gene: TRIM37 were set to Mulibrey nanism (Other peroxisomal disorders); Mulibrey nanism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAPPC11 |
Ellen McDonagh gene: TRAPPC11 was added gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26912795 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TPP1 |
Ellen McDonagh gene: TPP1 was added gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 27604308 Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TPMT |
Ellen McDonagh gene: TPMT was added gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPMT were set to 27604308 Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TPK1 | Ellen McDonagh Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TPK1 |
Ellen McDonagh gene: TPK1 was added gene: TPK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM70 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex V deficiency; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: TMEM70 Publications for gene TMEM70 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM70 |
Ellen McDonagh gene: TMEM70 was added gene: TMEM70 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM5 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 for gene: TMEM5 Publications for gene TMEM5 were changed from to 27212206 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM5 |
Ellen McDonagh gene: TMEM5 was added gene: TMEM5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM199 |
Ellen McDonagh gene: TMEM199 was added gene: TMEM199 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM165 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIk 614727; CDG2K (other congenital disorders of glycosylation) for gene: TMEM165 Publications for gene TMEM165 were changed from 22683087; 27401145 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM165 |
Ellen McDonagh gene: TMEM165 was added gene: TMEM165 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087; 27401145 Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM126B |
Ellen McDonagh gene: TMEM126B was added gene: TMEM126B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774 Phenotypes for gene: TMEM126B were set to Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM126A | Ellen McDonagh Added phenotypes Optic atrophy-7, 612989 for gene: TMEM126A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM126A |
Ellen McDonagh gene: TMEM126A was added gene: TMEM126A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126A were set to 27604308 Phenotypes for gene: TMEM126A were set to Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy 7; 612989 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TK2 | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: TK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TK2 |
Ellen McDonagh gene: TK2 was added gene: TK2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 27604308 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TH |
Ellen McDonagh gene: TH was added gene: TH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 27604308 Phenotypes for gene: TH were set to Intellectual disability; Early onset dystonia; Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TFR2 |
Ellen McDonagh gene: TFR2 was added gene: TFR2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFR2 were set to 27604308 Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250; Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 27604308 Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TCN1 |
Ellen McDonagh gene: TCN1 was added gene: TCN1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN1 were set to 27604308 Phenotypes for gene: TCN1 were set to Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism); No OMIM number |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TAT |
Ellen McDonagh gene: TAT was added gene: TAT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 27604308 Phenotypes for gene: TAT were set to Intellectual disability; Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TANGO2 |
Ellen McDonagh gene: TANGO2 was added gene: TANGO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TALDO1 |
Ellen McDonagh gene: TALDO1 was added gene: TALDO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TALDO1 were set to 15877206; 26238251; 21119539; 11283793; 17095351; 27604308; 18331807; 23315216 Phenotypes for gene: TALDO1 were set to Transaldolase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TACO1 | Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; ?Mitochondrial complex IV deficiency, 220110; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency for gene: TACO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 27604308 Phenotypes for gene: TACO1 were set to Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SURF1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1 Publications for gene SURF1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Mitochondrial Diseases; Complex IV deficiency; Isolated complex IV deficiency; Leigh Syndrome; Leigh syndrome, due to COX deficiency, 256000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUOX |
Ellen McDonagh gene: SUOX was added gene: SUOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 27604308; 27289259; 12112661 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUMF1 |
Ellen McDonagh gene: SUMF1 was added gene: SUMF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 27604308 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUGCT |
Ellen McDonagh gene: SUGCT was added gene: SUGCT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUGCT were set to 27604308 Phenotypes for gene: SUGCT were set to Glutaric aciduria type III (Organic acidurias); Glutaric aciduria type III 231690 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG1 |
Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SUCLG1 Publications for gene SUCLG1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG1 |
Ellen McDonagh gene: SUCLG1 was added gene: SUCLG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLA2 | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: SUCLA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 27604308 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STT3B |
Ellen McDonagh gene: STT3B was added gene: STT3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STT3B were set to ?Congenital disorder of glycosylation, type Ix 615597 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STT3A |
Ellen McDonagh gene: STT3A was added gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STAT2 |
Ellen McDonagh gene: STAT2 was added gene: STAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to PMID: 26122121 Phenotypes for gene: STAT2 were set to elongated mitochondria; severe neurological deterioration following viral infection |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL5 |
Ellen McDonagh Added phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056 for gene: ST3GAL5 Publications for gene ST3GAL5 were changed from 27604308 to 24026681; 15502825 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL5 |
Ellen McDonagh gene: ST3GAL5 was added gene: ST3GAL5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 27604308 Phenotypes for gene: ST3GAL5 were set to Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency (Disorders of complex lipid synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3 Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh gene: ST3GAL3 was added gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 23252400 Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3 Publications for gene SRD5A3 were changed from 27480077 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh gene: SRD5A3 was added gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 27480077 Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPR |
Ellen McDonagh gene: SPR was added gene: SPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 27604308 Phenotypes for gene: SPR were set to Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SMPD1 |
Ellen McDonagh gene: SMPD1 was added gene: SMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLCO1B3 |
Ellen McDonagh gene: SLCO1B3 was added gene: SLCO1B3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO1B3 were set to 22232210 Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLCO1B1 |
Ellen McDonagh gene: SLCO1B1 was added gene: SLCO1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO1B1 were set to 24816252; 22232210 Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 27604308 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A3 |
Ellen McDonagh gene: SLC6A3 was added gene: SLC6A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to 27604308 Phenotypes for gene: SLC6A3 were set to Intellectual disability; Early onset dystonia; Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC5A1 |
Ellen McDonagh gene: SLC5A1 was added gene: SLC5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A1 were set to 27604308 Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption (Disorders of glucose transport); Glucose/galactose malabsorption 606824 (Disorders of glucose transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 211530; Fazio-Londe disease 211500 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC52A2 |
Ellen McDonagh gene: SLC52A2 was added gene: SLC52A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 614707 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC46A1 |
Ellen McDonagh gene: SLC46A1 was added gene: SLC46A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 27604308 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8 Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh gene: SLC39A8 was added gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 27604308 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A4 |
Ellen McDonagh gene: SLC39A4 was added gene: SLC39A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 27604308 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A14 |
Ellen McDonagh gene: SLC39A14 was added gene: SLC39A14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 27231142 Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC37A4 |
Ellen McDonagh gene: SLC37A4 was added gene: SLC37A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 27604308 Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic, 232240; Glycogen storage disease Ib, 232220; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic; Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35D1 |
Ellen McDonagh Added phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) for gene: SLC35D1 Publications for gene SLC35D1 were changed from 27604308 to 19508970; 17952091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35D1 |
Ellen McDonagh gene: SLC35D1 was added gene: SLC35D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35D1 were set to 27604308 Phenotypes for gene: SLC35D1 were set to 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35C1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35C1 Publications for gene SLC35C1 were changed from 27604308 to 12476046; 11326280 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35C1 |
Ellen McDonagh gene: SLC35C1 was added gene: SLC35C1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 27604308 Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A3 |
Ellen McDonagh gene: SLC35A3 was added gene: SLC35A3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A3 were set to 24031089 Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1 Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A1 |
Ellen McDonagh gene: SLC35A1 was added gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 23873973; 15576474 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC30A10 |
Ellen McDonagh gene: SLC30A10 was added gene: SLC30A10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 27604308 Phenotypes for gene: SLC30A10 were set to Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC2A2 |
Ellen McDonagh gene: SLC2A2 was added gene: SLC2A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 27604308 Phenotypes for gene: SLC2A2 were set to Glycogen storage disease type XI (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glucose transporter 2 deficiency (Disorders of glucose transport); Fanconi-Bickel Syndrome; renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC27A5 |
Ellen McDonagh gene: SLC27A5 was added gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46 Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to PMID: 26168012 Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38 Publications for gene SLC25A38 were changed from 27604308 to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh gene: SLC25A38 was added gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 27604308 Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3 Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh gene: SLC25A3 was added gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081 Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26 Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh gene: SLC25A26 was added gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to PMID: 26522469 Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A22 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22 Publications for gene SLC25A22 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A22 |
Ellen McDonagh gene: SLC25A22 was added gene: SLC25A22 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A20 |
Ellen McDonagh gene: SLC25A20 was added gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A19 |
Ellen McDonagh Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19 Publications for gene SLC25A19 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A19 |
Ellen McDonagh gene: SLC25A19 was added gene: SLC25A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A15 |
Ellen McDonagh gene: SLC25A15 was added gene: SLC25A15 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 27604308 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A13 | Ellen McDonagh Added phenotypes Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A13 |
Ellen McDonagh gene: SLC25A13 was added gene: SLC25A13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 27604308 Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471; Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A12 | Ellen McDonagh Added phenotypes Hypomyelination, global cerebral, 612949 for gene: SLC25A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A12 |
Ellen McDonagh gene: SLC25A12 was added gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to 27604308 Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A1 | Ellen McDonagh Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Disorders of mitochondrial protein transport for gene: SLC25A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A1 |
Ellen McDonagh gene: SLC25A1 was added gene: SLC25A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 27604308 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC22A5 |
Ellen McDonagh gene: SLC22A5 was added gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 27604308; 24816252 Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A3 |
Ellen McDonagh Added phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 for gene: SLC19A3 Publications for gene SLC19A3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A3 |
Ellen McDonagh gene: SLC19A3 was added gene: SLC19A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A2 |
Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) for gene: SLC19A2 Publications for gene SLC19A2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A2 |
Ellen McDonagh gene: SLC19A2 was added gene: SLC19A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC18A2 |
Ellen McDonagh gene: SLC18A2 was added gene: SLC18A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A2 were set to 27604308; 26497564; 23363473 Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC17A5 |
Ellen McDonagh gene: SLC17A5 was added gene: SLC17A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC12A3 |
Ellen McDonagh gene: SLC12A3 was added gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A3 were set to 27604308 Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SKIV2L |
Ellen McDonagh gene: SKIV2L was added gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 27604308 Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SI |
Ellen McDonagh gene: SI was added gene: SI was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SI were set to 27604308; 14724820; 8648527; 16329100 Phenotypes for gene: SI were set to CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SHPK |
Ellen McDonagh gene: SHPK was added gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHPK were set to 27604308 Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SGSH |
Ellen McDonagh gene: SGSH was added gene: SGSH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3A |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SERAC1 |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1 Publications for gene SERAC1 were changed from 29205472 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SERAC1 |
Ellen McDonagh gene: SERAC1 was added gene: SERAC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29205472 Phenotypes for gene: SERAC1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHD | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHD |
Ellen McDonagh gene: SDHD was added gene: SDHD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHD were set to 27604308 Phenotypes for gene: SDHD were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex II deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHB |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB Publications for gene SDHB were changed from 27604308 to PMID: 26925370; 22972948 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHB |
Ellen McDonagh gene: SDHB was added gene: SDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 27604308 Phenotypes for gene: SDHB were set to Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF1 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Isolated complex II deficiency for gene: SDHAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 27604308 Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHA | Ellen McDonagh Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency for gene: SDHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 27604308 Phenotypes for gene: SCP2 were set to Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO2 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 for gene: SCO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO2 |
Ellen McDonagh gene: SCO2 was added gene: SCO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 27604308 Phenotypes for gene: SCO2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO1 | Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency for gene: SCO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO1 |
Ellen McDonagh gene: SCO1 was added gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO1 were set to 27604308 Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SC5D |
Ellen McDonagh gene: SC5D was added gene: SC5D was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SC5D were set to 27604308 Phenotypes for gene: SC5D were set to Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SARS2 Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh gene: SARS2 was added gene: SARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to PMID: 21255763; 24034276 Phenotypes for gene: SARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARDH |
Ellen McDonagh gene: SARDH was added gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 27604308 Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAR1B |
Ellen McDonagh gene: SAR1B was added gene: SAR1B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAR1B were set to 27604308 Phenotypes for gene: SAR1B were set to Anderson disease (Inherited hypolipidaemias); CHYLOMICRON RETENTION DISEASE 246700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1 Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 27604308 Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh gene: SACS was added gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RPIA |
Ellen McDonagh gene: RPIA was added gene: RPIA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 27604308; 30088433; 14988808; 28801340 Phenotypes for gene: RPIA were set to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ROBO3 |
Ellen McDonagh gene: ROBO3 was added gene: ROBO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 16525029; 15105459 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASET2 |
Ellen McDonagh gene: RNASET2 was added gene: RNASET2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 27604308 Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2C |
Ellen McDonagh gene: RNASEH2C was added gene: RNASEH2C was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 27604308 Phenotypes for gene: RNASEH2C were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3; Intracerebral calcification disorders; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 27604308 Phenotypes for gene: RNASEH2B were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 27604308 Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH1 | Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 for gene: RNASEH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH1 |
Ellen McDonagh gene: RNASEH1 was added gene: RNASEH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH1 were set to Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RMND1 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect for gene: RMND1 Publications for gene RMND1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RMND1 |
Ellen McDonagh gene: RMND1 was added gene: RMND1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1 Publications for gene RFT1 were changed from 23111317 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh gene: RFT1 was added gene: RFT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 23111317 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23889995; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RARS2 |
Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2 Publications for gene RARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RARS2 |
Ellen McDonagh gene: RARS2 was added gene: RARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | QDPR |
Ellen McDonagh gene: QDPR was added gene: QDPR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 27604308 Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYGM |
Ellen McDonagh gene: PYGM was added gene: PYGM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 27604308 Phenotypes for gene: PYGM were set to Glycogen storage disease type V, McArdle (Glycogen storage disorders); McArdle disease 232600 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYGL |
Ellen McDonagh gene: PYGL was added gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 27604308 Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYCR1 | Ellen McDonagh Added phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 for gene: PYCR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PYCR1 |
Ellen McDonagh gene: PYCR1 was added gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PUS1 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial myopathy and sideroblastic anemia 1, 600462 for gene: PUS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PUS1 |
Ellen McDonagh gene: PUS1 was added gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 27604308 Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PTS |
Ellen McDonagh gene: PTS was added gene: PTS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 27604308 Phenotypes for gene: PTS were set to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSPH |
Ellen McDonagh gene: PSPH was added gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 27604308; 24816252 Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAT1 |
Ellen McDonagh gene: PSAT1 was added gene: PSAT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 27604308 Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAP |
Ellen McDonagh gene: PSAP was added gene: PSAP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 27604308 Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRODH |
Ellen McDonagh gene: PRODH was added gene: PRODH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 27604308; 24816252 Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PREPL |
Ellen McDonagh gene: PREPL was added gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 27604308 Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPT1 |
Ellen McDonagh gene: PPT1 was added gene: PPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPT1 were set to 27604308 Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPM1B |
Ellen McDonagh gene: PPM1B was added gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1B were set to 27604308; 15913950; 11524703 Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPA2 |
Ellen McDonagh gene: PPA2 was added gene: PPA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POR |
Ellen McDonagh gene: POR was added gene: POR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POR were set to 27604308 Phenotypes for gene: POR were set to Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2 Publications for gene POMT2 were changed from 27604308 to 27421908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 27604308 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 for gene: POMT1 Publications for gene POMT1 were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 27421908 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT2 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 for gene: POMGNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT2 |
Ellen McDonagh gene: POMGNT2 was added gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 27066570 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 27604308 to 27421908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh gene: POMGNT1 was added gene: POMGNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 27604308 Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPT1 |
Ellen McDonagh Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1 Publications for gene PNPT1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPT1 |
Ellen McDonagh gene: PNPT1 was added gene: PNPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to respiratory chain disorder; Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; hearing loss |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPO |
Ellen McDonagh gene: PNPO was added gene: PNPO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPO were set to 27604308 Phenotypes for gene: PNPO were set to Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNP |
Ellen McDonagh gene: PNP was added gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 27604308 Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNLIP |
Ellen McDonagh gene: PNLIP was added gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 27604308 Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514 Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMM2 |
Ellen McDonagh Added phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2 Publications for gene PMM2 were changed from 27604308 to 11875054; 11058895; 11409861 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMM2 |
Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 27604308 Phenotypes for gene: PMM2 were set to Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PLA2G6 |
Ellen McDonagh gene: PLA2G6 was added gene: PLA2G6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 27604308; 18570303; 16783378; 18799783 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PITRM1 |
Ellen McDonagh gene: PITRM1 was added gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to PMID: 26697887 Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PINK1 |
Ellen McDonagh gene: PINK1 was added gene: PINK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PINK1 were set to 27604308 Phenotypes for gene: PINK1 were set to Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGW |
Ellen McDonagh gene: PIGW was added gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PIGV Publications for gene PIGV were changed from 27604308 to 20802478; 24129430 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh gene: PIGV was added gene: PIGV was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 27604308 Phenotypes for gene: PIGV were set to Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 23636107; 28327575 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh gene: PIGT was added gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 28327575 Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh gene: PIGO was added gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086; 27177984; 24129430 Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 for gene: PIGN Publications for gene PIGN were changed from 27604308 to 26419326; 21493957 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh gene: PIGN was added gene: PIGN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 27604308 Phenotypes for gene: PIGN were set to PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGM | Ellen McDonagh Added phenotypes Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 for gene: PIGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGM |
Ellen McDonagh gene: PIGM was added gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 27604308; 16767100; 25293775 Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh Added phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 for gene: PIGL Publications for gene PIGL were changed from 27604308 to 22444671 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh gene: PIGL was added gene: PIGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 27604308 Phenotypes for gene: PIGL were set to PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHYKPL |
Ellen McDonagh gene: PHYKPL was added gene: PHYKPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 27604308 Phenotypes for gene: PHYKPL were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism); [?Phosphohydroxylysinuria] 615011 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHYH |
Ellen McDonagh gene: PHYH was added gene: PHYH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYH were set to 27604308 Phenotypes for gene: PHYH were set to Refsum disease, 266500; Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKG2 |
Ellen McDonagh gene: PHKG2 was added gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 27604308 Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKB |
Ellen McDonagh gene: PHKB was added gene: PHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKB were set to 27604308 Phenotypes for gene: PHKB were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHGDH |
Ellen McDonagh gene: PHGDH was added gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 27604308; 24816252 Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM3 | Ellen McDonagh Added phenotypes Immunodeficiency 23 for gene: PGM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM3 |
Ellen McDonagh gene: PGM3 was added gene: PGM3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24698316 Phenotypes for gene: PGM3 were set to Immunodeficiency 23 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM1 |
Ellen McDonagh Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1 Publications for gene PGM1 were changed from 27604308 to 27206562 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM1 |
Ellen McDonagh gene: PGM1 was added gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 27604308 Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP3 | Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 4 for gene: PGAP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP3 |
Ellen McDonagh gene: PGAP3 was added gene: PGAP3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PGAP2 Publications for gene PGAP2 were changed from 23561846; 23561847 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh gene: PGAP2 was added gene: PGAP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to 23561846; 23561847 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAM2 |
Ellen McDonagh gene: PGAM2 was added gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 27604308 Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PFKM |
Ellen McDonagh gene: PFKM was added gene: PFKM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 27604308 Phenotypes for gene: PFKM were set to Glycogen storage disease VII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX7 |
Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX7 were set to 27604308 Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1; Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX6 |
Ellen McDonagh gene: PEX6 was added gene: PEX6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 27604308 Phenotypes for gene: PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX5 |
Ellen McDonagh gene: PEX5 was added gene: PEX5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 27604308 Phenotypes for gene: PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX3 |
Ellen McDonagh gene: PEX3 was added gene: PEX3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX3 were set to 27604308 Phenotypes for gene: PEX3 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 10A (Zellweger) 614882 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX26 |
Ellen McDonagh gene: PEX26 was added gene: PEX26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX26 were set to 27604308 Phenotypes for gene: PEX26 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 7A (Zellweger) 61487; Peroxisome biogenesis disorder 7B 614873 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX2 |
Ellen McDonagh gene: PEX2 was added gene: PEX2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 27604308 Phenotypes for gene: PEX2 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX19 were set to 27604308 Phenotypes for gene: PEX19 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 12A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 27604308 Phenotypes for gene: PEX16 were set to Disorders of peroxisome biogenesis; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisomal biogenesis disorders; Zellweger Syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 27604308 Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 27604308 Phenotypes for gene: PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 27604308 Phenotypes for gene: PEX12 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX11B |
Ellen McDonagh gene: PEX11B was added gene: PEX11B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 27604308 Phenotypes for gene: PEX10 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 27604308 Phenotypes for gene: PEX1 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Peroxisome biogenesis disorder 1A (Zellweger) 214100 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100 Publications for gene PET100 were changed from PMID: 24462369 to 24462369 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh gene: PET100 was added gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET100 were set to PMID: 24462369 Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEPD |
Ellen McDonagh gene: PEPD was added gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308 Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS2 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS2 Publications for gene PDSS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS2 |
Ellen McDonagh gene: PDSS2 was added gene: PDSS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS1 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS1 Publications for gene PDSS1 were changed from PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS1 |
Ellen McDonagh gene: PDSS1 was added gene: PDSS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh gene: PDPR was added gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDPR were set to PMID: 25558065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP2 |
Ellen McDonagh gene: PDP2 was added gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP2 were set to 27604308 Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782; Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDP1 Publications for gene PDP1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP1 |
Ellen McDonagh gene: PDP1 was added gene: PDP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHX |
Ellen McDonagh Added phenotypes Lacticacidemia due to PDX1 deficiency; Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) for gene: PDHX Publications for gene PDHX were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHX |
Ellen McDonagh gene: PDHX was added gene: PDHX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHB |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-beta deficiency, 614111 for gene: PDHB Publications for gene PDHB were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHB |
Ellen McDonagh gene: PDHB was added gene: PDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCK1 |
Ellen McDonagh gene: PCK1 was added gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 27604308 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PC | Ellen McDonagh Added phenotypes Pyruvate carboxylase deficiency for gene: PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PC |
Ellen McDonagh gene: PC was added gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 27604308 Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PARS2 |
Ellen McDonagh gene: PARS2 was added gene: PARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to PMID: 25629079 (single case) Phenotypes for gene: PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PANK2 | Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 for gene: PANK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PANK2 |
Ellen McDonagh gene: PANK2 was added gene: PANK2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 27604308 Phenotypes for gene: PANK2 were set to Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PAH |
Ellen McDonagh gene: PAH was added gene: PAH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 27604308; 24816252 Phenotypes for gene: PAH were set to Phenylketonuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OXCT1 |
Ellen McDonagh gene: OXCT1 was added gene: OXCT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 27604308 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency; severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism); Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OAT |
Ellen McDonagh gene: OAT was added gene: OAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 27604308 Phenotypes for gene: OAT were set to Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism); Gyrate atrophy of choroid and retina with or without ornithinemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUS1 |
Ellen McDonagh gene: NUS1 was added gene: NUS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUS1 were set to ?Congenital disorder of glycosylation, type 1aa 617082 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 27604308 Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUBPL |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NUBPL Publications for gene NUBPL were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUBPL |
Ellen McDonagh gene: NUBPL was added gene: NUBPL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NT5C3A |
Ellen McDonagh gene: NT5C3A was added gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 27604308 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 27604308 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NHLRC1 |
Ellen McDonagh gene: NHLRC1 was added gene: NHLRC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to 27604308 Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NGLY1 |
Ellen McDonagh Added phenotypes OrphaNet: ORPHA404454; Alacrimia-choreoathetosis-liver dysfunction syndrome; OMIM:615273 for gene: NGLY1 Publications for gene NGLY1 were changed from to 25220016; 26350515; 25900930; 24651605; 25605922; 22581936; 25707956 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NGLY1 |
Ellen McDonagh gene: NGLY1 was added gene: NGLY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation 615273 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NFU1 |
Ellen McDonagh Added phenotypes Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: NFU1 Publications for gene NFU1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NFU1 |
Ellen McDonagh gene: NFU1 was added gene: NFU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NEU1 |
Ellen McDonagh gene: NEU1 was added gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 27604308 Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV2 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2 Publications for gene NDUFV2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV2 |
Ellen McDonagh gene: NDUFV2 was added gene: NDUFV2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV1 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV1 |
Ellen McDonagh gene: NDUFV1 was added gene: NDUFV1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV1 were set to 27604308 Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS8 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS8 Publications for gene NDUFS8 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS8 |
Ellen McDonagh gene: NDUFS8 was added gene: NDUFS8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS7 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFS7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS7 |
Ellen McDonagh gene: NDUFS7 was added gene: NDUFS7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS7 were set to 27604308 Phenotypes for gene: NDUFS7 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS6 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6 Publications for gene NDUFS6 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS6 |
Ellen McDonagh gene: NDUFS6 was added gene: NDUFS6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS6 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS4 |
Ellen McDonagh Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS4 Publications for gene NDUFS4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS4 |
Ellen McDonagh gene: NDUFS4 was added gene: NDUFS4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS3 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS3 |
Ellen McDonagh gene: NDUFS3 was added gene: NDUFS3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS3 were set to 27604308 Phenotypes for gene: NDUFS3 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS2 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS2 |
Ellen McDonagh gene: NDUFS2 was added gene: NDUFS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 27604308 Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS1 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS1 Publications for gene NDUFS1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS1 |
Ellen McDonagh gene: NDUFS1 was added gene: NDUFS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB9 |
Ellen McDonagh Added phenotypes ?Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB9 Publications for gene NDUFB9 were changed from 27604308 to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB9 |
Ellen McDonagh gene: NDUFB9 was added gene: NDUFB9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB9 were set to 27604308 Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB3 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3 Publications for gene NDUFB3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB3 |
Ellen McDonagh gene: NDUFB3 was added gene: NDUFB3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh gene: NDUFAF6 was added gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh Added phenotypes Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5 Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh gene: NDUFAF5 was added gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF4 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF4 |
Ellen McDonagh gene: NDUFAF4 was added gene: NDUFAF4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF4 were set to 27604308 Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF3 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF3 |
Ellen McDonagh gene: NDUFAF3 was added gene: NDUFAF3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF3 were set to 27604308 Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF2 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF2 Publications for gene NDUFAF2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF2 |
Ellen McDonagh gene: NDUFAF2 was added gene: NDUFAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF1 | Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF1 |
Ellen McDonagh gene: NDUFAF1 was added gene: NDUFAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 27604308 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA9 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA9 |
Ellen McDonagh gene: NDUFA9 was added gene: NDUFA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA2 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2 Publications for gene NDUFA2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA2 |
Ellen McDonagh gene: NDUFA2 was added gene: NDUFA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA13 |
Ellen McDonagh gene: NDUFA13 was added gene: NDUFA13 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA12 | Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency, 256000; Isolated complex I deficiency for gene: NDUFA12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA12 |
Ellen McDonagh gene: NDUFA12 was added gene: NDUFA12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 27604308 Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA11 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA11 Publications for gene NDUFA11 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA11 |
Ellen McDonagh gene: NDUFA11 was added gene: NDUFA11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA10 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Isolated complex I deficiency for gene: NDUFA10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA10 |
Ellen McDonagh gene: NDUFA10 was added gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA10 were set to 27604308 Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAT8L |
Ellen McDonagh gene: NAT8L was added gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 19807691 Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 for gene: NARS2 Publications for gene NARS2 were changed from 25629079; PMID: 25385316; 25807530 to 25629079; 25807530; 25385316 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NARS2 |
Ellen McDonagh gene: NARS2 was added gene: NARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 25629079; PMID: 25385316; 25807530 Phenotypes for gene: NARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGS |
Ellen McDonagh gene: NAGS was added gene: NAGS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 27604308 Phenotypes for gene: NAGS were set to N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias); N-acetylglutamate synthase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGA |
Ellen McDonagh gene: NAGA was added gene: NAGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to Kanzaki disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MVK |
Ellen McDonagh gene: MVK was added gene: MVK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27604308 Phenotypes for gene: MVK were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MUT |
Ellen McDonagh gene: MUT was added gene: MUT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 27604308 Phenotypes for gene: MUT were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Methylmalonic aciduria, mut(0) type 251000; Methylmalonyl-CoA mutase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTTP |
Ellen McDonagh gene: MTTP was added gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 27604308 Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTRR |
Ellen McDonagh gene: MTRR was added gene: MTRR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 27604308 Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTR |
Ellen McDonagh gene: MTR was added gene: MTR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 27604308 Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTPAP | Ellen McDonagh Added phenotypes Ataxia, spastic, 4, 613672 for gene: MTPAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MTPAP |
Ellen McDonagh gene: MTPAP was added gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 27604308 Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTO1 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); infantile hypertrophic cardiomyopathy and lactic acidosis. for gene: MTO1 Publications for gene MTO1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTO1 |
Ellen McDonagh gene: MTO1 was added gene: MTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile hypertrophic cardiomyopathy and lactic acidosis. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTHFR |
Ellen McDonagh gene: MTHFR was added gene: MTHFR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 27604308 Phenotypes for gene: MTHFR were set to Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport); Homocystinuria due to MTHFR deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTHFD1 |
Ellen McDonagh gene: MTHFD1 was added gene: MTHFD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFD1 were set to {Abruptio placentae, susceptibility to}; {Spina bifida, folate-sensitive, susceptibility to} 601634 AR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTFMT | Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: MTFMT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MTFMT |
Ellen McDonagh gene: MTFMT was added gene: MTFMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 27604308 Phenotypes for gene: MTFMT were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MSMO1 |
Ellen McDonagh gene: MSMO1 was added gene: MSMO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308 Phenotypes for gene: MSMO1 were set to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS23 |
Ellen McDonagh gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS22 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22 Publications for gene MRPS22 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS22 |
Ellen McDonagh gene: MRPS22 was added gene: MRPS22 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS16 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 2, 610498; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS for gene: MRPS16 Publications for gene MRPS16 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS16 |
Ellen McDonagh gene: MRPS16 was added gene: MRPS16 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL3 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL3 |
Ellen McDonagh gene: MRPL3 was added gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 27604308 Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPV17 | Ellen McDonagh Added phenotypes Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 for gene: MPV17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 27604308 Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPI |
Ellen McDonagh Added phenotypes Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ib 602579 for gene: MPI Publications for gene MPI were changed from 27604308 to 10980531 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPI |
Ellen McDonagh gene: MPI was added gene: MPI was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 27604308 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1 Publications for gene MPDU1 were changed from 11733556 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh gene: MPDU1 was added gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOGS |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIb 606056; MOGS-CDG (Disorders of protein N-glycosylation) for gene: MOGS Publications for gene MOGS were changed from 27604308 to 20301507; 26805780; 24716661; 4716661 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOGS |
Ellen McDonagh gene: MOGS was added gene: MOGS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 27604308 Phenotypes for gene: MOGS were set to MOGS-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIb, 606056; (MOGS-CDG (Disorders of protein N-glycosylation)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOCS2 |
Ellen McDonagh gene: MOCS2 was added gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 27604308 Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOCS1 |
Ellen McDonagh gene: MOCS1 was added gene: MOCS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27604308 Phenotypes for gene: MOCS1 were set to Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMADHC |
Ellen McDonagh gene: MMADHC was added gene: MMADHC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMAB |
Ellen McDonagh gene: MMAB was added gene: MMAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 27604308 Phenotypes for gene: MMAB were set to Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism); Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMAA |
Ellen McDonagh gene: MMAA was added gene: MMAA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 27604308 Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100; Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MLYCD |
Ellen McDonagh gene: MLYCD was added gene: MLYCD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308 Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency; malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MGME1 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity for gene: MGME1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MGME1 |
Ellen McDonagh gene: MGME1 was added gene: MGME1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial DNA depletion syndrome 11, 615084; Disorders of mitochondrial DNA maintenance and integrity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MGAT2 |
Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 for gene: MGAT2 Publications for gene MGAT2 were changed from 27604308 to 19419693 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MGAT2 |
Ellen McDonagh gene: MGAT2 was added gene: MGAT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 27604308 Phenotypes for gene: MGAT2 were set to N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFSD8 |
Ellen McDonagh gene: MFSD8 was added gene: MFSD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFF |
Ellen McDonagh Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MFF Publications for gene MFF were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFF |
Ellen McDonagh gene: MFF was added gene: MFF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MDH2 |
Ellen McDonagh gene: MDH2 was added gene: MDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCOLN1 |
Ellen McDonagh gene: MCOLN1 was added gene: MCOLN1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 27604308 Phenotypes for gene: MCOLN1 were set to Mucolipidosis, Type IV; Mucolipidosis IV (Other lysosomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCEE |
Ellen McDonagh gene: MCEE was added gene: MCEE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 27604308 Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency (Organic acidurias); Methylmalonyl-CoA epimerase deficiency; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCCC2 |
Ellen McDonagh gene: MCCC2 was added gene: MCCC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCCC1 |
Ellen McDonagh gene: MCCC1 was added gene: MCCC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 27604308; 24816252 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MARS2 |
Ellen McDonagh Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2 Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MARS2 |
Ellen McDonagh gene: MARS2 was added gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 25754315; PMID: 22448145 Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MANBA |
Ellen McDonagh gene: MANBA was added gene: MANBA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 27604308 Phenotypes for gene: MANBA were set to Mannosidosis, beta |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN2B1 |
Ellen McDonagh gene: MAN2B1 was added gene: MAN2B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 27604308 Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1 Publications for gene MAN1B1 were changed from 24348268 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh gene: MAN1B1 was added gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 24348268 Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LRPPRC |
Ellen McDonagh Added phenotypes Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: LRPPRC Publications for gene LRPPRC were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LRPPRC |
Ellen McDonagh gene: LRPPRC was added gene: LRPPRC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LPIN1 |
Ellen McDonagh gene: LPIN1 was added gene: LPIN1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 27604308 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1 Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh gene: LONP1 was added gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063 Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LMBRD1 |
Ellen McDonagh gene: LMBRD1 was added gene: LMBRD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPT2 |
Ellen McDonagh gene: LIPT2 was added gene: LIPT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPT1 | Ellen McDonagh Added phenotypes Lipoyltransferase 1 deficiency for gene: LIPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPT1 |
Ellen McDonagh gene: LIPT1 was added gene: LIPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPC were set to 27604308 Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPA |
Ellen McDonagh gene: LIPA was added gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 27604308 Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIAS |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS Publications for gene LIAS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIAS |
Ellen McDonagh gene: LIAS was added gene: LIAS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LFNG |
Ellen McDonagh Added phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG Publications for gene LFNG were changed from 27604308 to 16385447 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LFNG |
Ellen McDonagh gene: LFNG was added gene: LFNG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 27604308 Phenotypes for gene: LFNG were set to O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDLRAP1 |
Ellen McDonagh gene: LDLRAP1 was added gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 27604308 Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDHA |
Ellen McDonagh gene: LDHA was added gene: LDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHA were set to 27604308 Phenotypes for gene: LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933; Muscle LDH deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LCT |
Ellen McDonagh gene: LCT was added gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 27604308 Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LCAT |
Ellen McDonagh gene: LCAT was added gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 27604308 Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARS2 |
Ellen McDonagh Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2 Publications for gene LARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARS2 |
Ellen McDonagh gene: LARS2 was added gene: LARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 for gene: LARGE1 Publications for gene LARGE1 were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 27421908 Phenotypes for gene: LARGE1 were set to N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | L2HGDH |
Ellen McDonagh gene: L2HGDH was added gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KYNU |
Ellen McDonagh gene: KYNU was added gene: KYNU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; multiple congenital malformations; ?Hydroxykynureninuria, 236800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KHK |
Ellen McDonagh gene: KHK was added gene: KHK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KHK were set to 27604308 Phenotypes for gene: KHK were set to Essential fructosuria (Disorders of fructose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KARS |
Ellen McDonagh Added phenotypes Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS Publications for gene KARS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KARS |
Ellen McDonagh gene: KARS was added gene: KARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IVD |
Ellen McDonagh gene: IVD was added gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 27604308; 24816252 Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ITPA |
Ellen McDonagh gene: ITPA was added gene: ITPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 27604308 Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency (Disorders of purine metabolism); Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISPD |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 for gene: ISPD Publications for gene ISPD were changed from to 26404900; 26687144 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISPD |
Ellen McDonagh gene: ISPD was added gene: ISPD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCU | Ellen McDonagh Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCU |
Ellen McDonagh gene: ISCU was added gene: ISCU was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCU were set to 27604308 Phenotypes for gene: ISCU were set to Rhabdomyolysis and metabolic muscle disorders; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA2 |
Ellen McDonagh gene: ISCA2 was added gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to PMID: 25539947 Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IER3IP1 |
Ellen McDonagh gene: IER3IP1 was added gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDUA |
Ellen McDonagh gene: IDUA was added gene: IDUA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 27604308 Phenotypes for gene: IDUA were set to Hurler syndrome; Mucopolysaccharidosis type 1H/S; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57 Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh gene: IBA57 was added gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to PMID: 23462291; 25971455 Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2 Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings). |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 27604308; 25130867; 27078007 Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HYAL1 |
Ellen McDonagh gene: HYAL1 was added gene: HYAL1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 27604308 Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX, 601492; MPS IX, Natowicz (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HTRA2 | Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type VIII for gene: HTRA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | HTRA2 |
Ellen McDonagh gene: HTRA2 was added gene: HTRA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27208207; 27696117 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPA9 |
Ellen McDonagh gene: HSPA9 was added gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to PMID: 26598328 Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD3B7 |
Ellen McDonagh gene: HSD3B7 was added gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 27604308 Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B4 |
Ellen McDonagh gene: HSD17B4 was added gene: HSD17B4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 27604308 Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515; Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPS1 |
Ellen McDonagh gene: HPS1 was added gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 27604308 Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HOGA1 |
Ellen McDonagh gene: HOGA1 was added gene: HOGA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 27604308 Phenotypes for gene: HOGA1 were set to Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hyperoxaluria, primary, type III 613616 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCS2 |
Ellen McDonagh gene: HMGCS2 was added gene: HMGCS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 27604308 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCL |
Ellen McDonagh Added phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) for gene: HMGCL Publications for gene HMGCL were changed from 8617516; 28583327; 9463337; 11129331 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCL |
Ellen McDonagh gene: HMGCL was added gene: HMGCL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 8617516; 28583327; 9463337; 11129331 Phenotypes for gene: HMGCL were set to 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency, 246450; HMGCLD |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HLCS |
Ellen McDonagh Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS Publications for gene HLCS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HLCS |
Ellen McDonagh gene: HLCS was added gene: HLCS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HIBCH |
Ellen McDonagh Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency; Methacrylic aciduria (Organic acidurias) for gene: HIBCH Publications for gene HIBCH were changed from 24299452; PMID: 25251209 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HIBCH |
Ellen McDonagh gene: HIBCH was added gene: HIBCH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 24299452; PMID: 25251209 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HGSNAT |
Ellen McDonagh gene: HGSNAT was added gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HGD |
Ellen McDonagh gene: HGD was added gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 27604308 Phenotypes for gene: HGD were set to Alkaptonuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HFE2 |
Ellen McDonagh gene: HFE2 was added gene: HFE2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE2 were set to 27604308 Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HFE |
Ellen McDonagh gene: HFE was added gene: HFE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HEXB |
Ellen McDonagh gene: HEXB was added gene: HEXB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 27604308 Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HEXA |
Ellen McDonagh gene: HEXA was added gene: HEXA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HARS2 | Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | HARS2 |
Ellen McDonagh gene: HARS2 was added gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS2 were set to 27604308 Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAMP |
Ellen McDonagh gene: HAMP was added gene: HAMP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAMP were set to 27604308 Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 27604308 Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADH |
Ellen McDonagh gene: HADH was added gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 27604308 Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAAO |
Ellen McDonagh gene: HAAO was added gene: HAAO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 27604308; 17334708; 28792876 Phenotypes for gene: HAAO were set to Multiple congenital malformations; VACTERL-like phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GYS2 |
Ellen McDonagh gene: GYS2 was added gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS2 were set to 27604308 Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GYS1 |
Ellen McDonagh gene: GYS1 was added gene: GYS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 27604308; 21958591; 24579562 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GYG1 |
Ellen McDonagh gene: GYG1 was added gene: GYG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GUSB |
Ellen McDonagh gene: GUSB was added gene: GUSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 27604308 Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis VII, 253220; MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GTPBP3 | Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: GTPBP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | GTPBP3 |
Ellen McDonagh gene: GTPBP3 was added gene: GTPBP3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23; mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GSS |
Ellen McDonagh gene: GSS was added gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 27604308 Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GRHPR |
Ellen McDonagh gene: GRHPR was added gene: GRHPR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 27604308 Phenotypes for gene: GRHPR were set to Primary hyperoxaluria type II (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GPD1 |
Ellen McDonagh gene: GPD1 was added gene: GPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPD1 were set to 24549054; 22226083 Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile, 614480 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GORAB |
Ellen McDonagh gene: GORAB was added gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 26000619 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNS |
Ellen McDonagh gene: GNS was added gene: GNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPTG |
Ellen McDonagh gene: GNPTG was added gene: GNPTG was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTG were set to 27604308 Phenotypes for gene: GNPTG were set to Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders); mucolipidpsis type III complementation group C; Mucolipidosis, Type III Gamma; Mucolipidosis III gamma |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPTAB |
Ellen McDonagh gene: GNPTAB was added gene: GNPTAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 27604308 Phenotypes for gene: GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis III alpha/beta; Mucolipidosis II, I-cell disease (Other lysosomal disorders); Mucolipidosis II alpha/beta |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPAT |
Ellen McDonagh gene: GNPAT was added gene: GNPAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 27604308 Phenotypes for gene: GNPAT were set to Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders); Rhizomelic chondrodysplasia punctata, type 2 222765 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNMT |
Ellen McDonagh gene: GNMT was added gene: GNMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 27604308; 17660255 Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNE |
Ellen McDonagh Added phenotypes Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: GNE Publications for gene GNE were changed from 27604308 to 26721333 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNE |
Ellen McDonagh gene: GNE was added gene: GNE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 27604308 Phenotypes for gene: GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GMPPB | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 for gene: GMPPB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | GMPPB |
Ellen McDonagh gene: GMPPB was added gene: GMPPB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GM2A |
Ellen McDonagh gene: GM2A was added gene: GM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLYCTK |
Ellen McDonagh gene: GLYCTK was added gene: GLYCTK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLYCTK were set to 27604308 Phenotypes for gene: GLYCTK were set to D-glyceric aciduria 220120; D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUL |
Ellen McDonagh gene: GLUL was added gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 27604308 Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLRX5 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GLRX5 Publications for gene GLRX5 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLRX5 |
Ellen McDonagh gene: GLRX5 was added gene: GLRX5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRX5 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Disorders of iron homeostasis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLDC |
Ellen McDonagh gene: GLDC was added gene: GLDC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLB1 |
Ellen McDonagh gene: GLB1 was added gene: GLB1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 27604308 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type I, 230500 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GIF |
Ellen McDonagh gene: GIF was added gene: GIF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIF were set to 27604308 Phenotypes for gene: GIF were set to Intrinsic factor deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1 Publications for gene GFPT1 were changed from 23569079 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh gene: GFPT1 was added gene: GFPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 23569079 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM1 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFM1 Publications for gene GFM1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM1 |
Ellen McDonagh gene: GFM1 was added gene: GFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFER |
Ellen McDonagh Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFER |
Ellen McDonagh gene: GFER was added gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; PMID: 26018198 Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCSH |
Ellen McDonagh gene: GCSH was added gene: GCSH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 27604308; 16450403 Phenotypes for gene: GCSH were set to Glycine encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCLC |
Ellen McDonagh gene: GCLC was added gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCDH |
Ellen McDonagh gene: GCDH was added gene: GCDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GBA |
Ellen McDonagh gene: GBA was added gene: GBA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 27604308 Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type II, 230900; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease; Gaucher disease (Sphingolipidoses) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATM |
Ellen McDonagh Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM Publications for gene GATM were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATM |
Ellen McDonagh gene: GATM was added gene: GATM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GAMT |
Ellen McDonagh gene: GAMT was added gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308 Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALT |
Ellen McDonagh gene: GALT was added gene: GALT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 27604308 Phenotypes for gene: GALT were set to Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) for gene: GALNT3 Publications for gene GALNT3 were changed from 27604308 to 15133511 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh gene: GALNT3 was added gene: GALNT3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 27604308 Phenotypes for gene: GALNT3 were set to Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tumoral calcinosis, hyperphosphatemic, familial 211900 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNS |
Ellen McDonagh gene: GALNS was added gene: GALNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNS were set to 27604308 Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALK1 |
Ellen McDonagh gene: GALK1 was added gene: GALK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALE |
Ellen McDonagh gene: GALE was added gene: GALE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308 Phenotypes for gene: GALE were set to Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALC |
Ellen McDonagh gene: GALC was added gene: GALC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 27604308 Phenotypes for gene: GALC were set to Krabbe disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GAA |
Ellen McDonagh gene: GAA was added gene: GAA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC3 |
Ellen McDonagh gene: G6PC3 was added gene: G6PC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC | Ellen McDonagh Added phenotypes Glycogen storage disease Ia for gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC |
Ellen McDonagh gene: G6PC was added gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 27604308 Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FXN | Ellen McDonagh Added phenotypes Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 for gene: FXN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | FXN |
Ellen McDonagh gene: FXN was added gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 27604308 Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FUT8 |
Ellen McDonagh gene: FUT8 was added gene: FUT8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FUCA1 |
Ellen McDonagh gene: FUCA1 was added gene: FUCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FTCD |
Ellen McDonagh gene: FTCD was added gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOXRED1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1 Publications for gene FOXRED1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOXRED1 |
Ellen McDonagh gene: FOXRED1 was added gene: FOXRED1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR1 |
Ellen McDonagh gene: FOLR1 was added gene: FOLR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 27604308 Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FMO3 |
Ellen McDonagh gene: FMO3 was added gene: FMO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMO3 were set to 27604308 Phenotypes for gene: FMO3 were set to Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FLAD1 |
Ellen McDonagh gene: FLAD1 was added gene: FLAD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to PubMed: 27259049 Phenotypes for gene: FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKTN |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKTN Publications for gene FKTN were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKTN |
Ellen McDonagh gene: FKTN was added gene: FKTN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 27421908 Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKRP |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKRP Publications for gene FKRP were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKRP |
Ellen McDonagh gene: FKRP was added gene: FKRP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 27421908 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FH |
Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH Publications for gene FH were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FH |
Ellen McDonagh gene: FH was added gene: FH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency, 606812 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FECH |
Ellen McDonagh gene: FECH was added gene: FECH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FECH were set to 27604308 Phenotypes for gene: FECH were set to Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FBXL4 | Ellen McDonagh Added phenotypes fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 for gene: FBXL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | FBXL4 |
Ellen McDonagh gene: FBXL4 was added gene: FBXL4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.; Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FBP1 |
Ellen McDonagh gene: FBP1 was added gene: FBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBP1 were set to 27604308 Phenotypes for gene: FBP1 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FASTKD2 | Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: FASTKD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | FASTKD2 |
Ellen McDonagh gene: FASTKD2 was added gene: FASTKD2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 27604308 Phenotypes for gene: FASTKD2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2 Publications for gene FARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FARS2 |
Ellen McDonagh gene: FARS2 was added gene: FARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 14, 614946 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FAR1 |
Ellen McDonagh gene: FAR1 was added gene: FAR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FAH |
Ellen McDonagh gene: FAH was added gene: FAH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 27604308 Phenotypes for gene: FAH were set to Tyrosinemia, type I |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 27604308 Phenotypes for gene: FA2H were set to Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1 Publications for gene EXT1 were changed from 12417417 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXT1 were set to 12417417 Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETHE1 |
Ellen McDonagh Added phenotypes Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Ethylmalonic encephalopathy for gene: ETHE1 Publications for gene ETHE1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETHE1 |
Ellen McDonagh gene: ETHE1 was added gene: ETHE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Ethylmalonic encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFDH | Ellen McDonagh Added phenotypes GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; Disorders of ubiquinone metabolism and biosynthesis for gene: ETFDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 27604308; 24816252 Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFB |
Ellen McDonagh gene: ETFB was added gene: ETFB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27604308 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFA |
Ellen McDonagh gene: ETFA was added gene: ETFA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 27604308 Phenotypes for gene: ETFA were set to Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EPM2A |
Ellen McDonagh gene: EPM2A was added gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 28624465; 23222957; 26917586; 23674064; 25331754; 23838600; 26395118 Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ENO3 |
Ellen McDonagh gene: ENO3 was added gene: ENO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENO3 were set to 27604308; 25267339; 11506403; 25929793 Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ELAC2 | Ellen McDonagh Added phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440 for gene: ELAC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ELAC2 |
Ellen McDonagh gene: ELAC2 was added gene: ELAC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELAC2 were set to infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 17, 615440 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EGF |
Ellen McDonagh gene: EGF was added gene: EGF was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGF were set to 27604308 Phenotypes for gene: EGF were set to Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ECHS1 | Ellen McDonagh Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency for gene: ECHS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ECHS1 |
Ellen McDonagh gene: ECHS1 was added gene: ECHS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EARS2 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: EARS2 Publications for gene EARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EARS2 |
Ellen McDonagh gene: EARS2 was added gene: EARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DYM | Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 for gene: DYM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DYM |
Ellen McDonagh gene: DYM was added gene: DYM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPYS |
Ellen McDonagh gene: DPYS was added gene: DPYS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYS were set to 27604308 Phenotypes for gene: DPYS were set to Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPYD |
Ellen McDonagh gene: DPYD was added gene: DPYD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYD were set to 27604308 Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3 Publications for gene DPM3 were changed from 27604308 to 19576565 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh gene: DPM3 was added gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 27604308 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2 Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh gene: DPM2 was added gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DPM1 Publications for gene DPM1 were changed from 23856421 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh gene: DPM1 was added gene: DPM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 23856421 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 for gene: DPAGT1 Publications for gene DPAGT1 were changed from 12872255; 22304930 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh gene: DPAGT1 was added gene: DPAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22304930 Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DOLK |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DOLK Publications for gene DOLK were changed from 27604308 to 24144945; 22242004 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DOLK |
Ellen McDonagh gene: DOLK was added gene: DOLK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 27604308 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC19 |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type V for gene: DNAJC19 Publications for gene DNAJC19 were changed from 16055927; 27604308; 27426421; 22797137; 27928778 to 27604308; 27426421; 16055927; 27928778 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC19 |
Ellen McDonagh gene: DNAJC19 was added gene: DNAJC19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC12 |
Ellen McDonagh gene: DNAJC12 was added gene: DNAJC12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689 Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLD |
Ellen McDonagh Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD Publications for gene DLD were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLD |
Ellen McDonagh gene: DLD was added gene: DLD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLAT |
Ellen McDonagh Added phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT Publications for gene DLAT were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLAT |
Ellen McDonagh gene: DLAT was added gene: DLAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, 245348 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHODH |
Ellen McDonagh gene: DHODH was added gene: DHODH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 27604308 Phenotypes for gene: DHODH were set to Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHFR |
Ellen McDonagh gene: DHFR was added gene: DHFR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 27604308 Phenotypes for gene: DHFR were set to Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport); Megaloblastic anemia due to dihydrofolate reductase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh gene: DHDDS was added gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 27604308 Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Intellectual disability; IUGR and IGF abnormalities; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHCR24 |
Ellen McDonagh gene: DHCR24 was added gene: DHCR24 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 27604308 Phenotypes for gene: DHCR24 were set to Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DGUOK | Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity for gene: DGUOK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 27604308 Phenotypes for gene: DGUOK were set to Deoxyguanosine kinase deficiency (Disorders of purine metabolism); Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DDOST |
Ellen McDonagh gene: DDOST was added gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 22305527 Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DDC |
Ellen McDonagh gene: DDC was added gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 27604308; 24816252 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DCXR |
Ellen McDonagh gene: DCXR was added gene: DCXR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCXR were set to 27604308 Phenotypes for gene: DCXR were set to [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DCC |
Ellen McDonagh gene: DCC was added gene: DCC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCC were set to 28250456 Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DBT |
Ellen McDonagh gene: DBT was added gene: DBT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBT were set to 27604308 Phenotypes for gene: DBT were set to Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria); Maple syrup urine disease, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DBH |
Ellen McDonagh gene: DBH was added gene: DBH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBH were set to Dopamine beta-hydroxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DARS2 |
Ellen McDonagh Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2 Publications for gene DARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DARS2 |
Ellen McDonagh gene: DARS2 was added gene: DARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DARS | Ellen McDonagh Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | DARS |
Ellen McDonagh gene: DARS was added gene: DARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | D2HGDH |
Ellen McDonagh gene: D2HGDH was added gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 27604308 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP7B1 |
Ellen McDonagh gene: CYP7B1 was added gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 27604308; 9802883 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP7A1 |
Ellen McDonagh gene: CYP7A1 was added gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7A1 were set to 27604308 Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 27604308 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYC1 | Ellen McDonagh Added phenotypes Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 6, 615453 for gene: CYC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CYC1 |
Ellen McDonagh gene: CYC1 was added gene: CYC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 6, 615453 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CUBN |
Ellen McDonagh gene: CUBN was added gene: CUBN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism); Megaloblastic anemia-1, Finnish type; Proteinuric renal disease; Unexplained kidney failure in young people |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSK |
Ellen McDonagh gene: CTSK was added gene: CTSK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to 27604308 Phenotypes for gene: CTSK were set to Pycnodysostosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSD |
Ellen McDonagh gene: CTSD was added gene: CTSD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSC |
Ellen McDonagh gene: CTSC was added gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 27604308 Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSA |
Ellen McDonagh gene: CTSA was added gene: CTSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSA were set to 27604308 Phenotypes for gene: CTSA were set to Galactosialidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTNS |
Ellen McDonagh gene: CTNS was added gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 219750 Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTH |
Ellen McDonagh gene: CTH was added gene: CTH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CSTB |
Ellen McDonagh gene: CSTB was added gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 27604308 Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT2 |
Ellen McDonagh gene: CPT2 was added gene: CPT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 27604308; 24816252 Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 27604308 Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPS1 |
Ellen McDonagh gene: CPS1 was added gene: CPS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 27604308; 24816252 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CP |
Ellen McDonagh gene: CP was added gene: CP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX8A |
Ellen McDonagh gene: COX8A was added gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to PMID: 26685157 Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6B1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 for gene: COX6B1 Publications for gene COX6B1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6B1 |
Ellen McDonagh gene: COX6B1 was added gene: COX6B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6A1 | Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6A1 |
Ellen McDonagh gene: COX6A1 was added gene: COX6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX4I2 | Ellen McDonagh Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases for gene: COX4I2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | COX4I2 |
Ellen McDonagh gene: COX4I2 was added gene: COX4I2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I2 were set to 27604308 Phenotypes for gene: COX4I2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX20 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX20 Publications for gene COX20 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX20 |
Ellen McDonagh gene: COX20 was added gene: COX20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX15 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15 Publications for gene COX15 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX15 |
Ellen McDonagh gene: COX15 was added gene: COX15 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX14 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14 Publications for gene COX14 were changed from PMID: 22243966 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX14 |
Ellen McDonagh gene: COX14 was added gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX14 were set to PMID: 22243966 Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX10 |
Ellen McDonagh Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX10 Publications for gene COX10 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX10 |
Ellen McDonagh gene: COX10 was added gene: COX10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ9 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9 Publications for gene COQ9 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ9 |
Ellen McDonagh gene: COQ9 was added gene: COQ9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh gene: COQ8B was added gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families). Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8A |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A Publications for gene COQ8A were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8A |
Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ7 |
Ellen McDonagh gene: COQ7 was added gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 26084283 Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ6 Publications for gene COQ6 were changed from PMID: 21540551 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh gene: COQ6 was added gene: COQ6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ6 were set to PMID: 21540551 Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ4 |
Ellen McDonagh Added phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 for gene: COQ4 Publications for gene COQ4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ4 |
Ellen McDonagh gene: COQ4 was added gene: COQ4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ2 |
Ellen McDonagh Added phenotypes {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 for gene: COQ2 Publications for gene COQ2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ2 |
Ellen McDonagh gene: COQ2 was added gene: COQ2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8 Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG8 |
Ellen McDonagh gene: COG8 was added gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to 27604308 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh Added phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 for gene: COG7 Publications for gene COG7 were changed from 15107842; 11980916 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh gene: COG7 was added gene: COG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG7 were set to 15107842; 11980916 Phenotypes for gene: COG7 were set to Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG6 |
Ellen McDonagh Added phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 for gene: COG6 Publications for gene COG6 were changed from 27604308 to 26260076; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG6 |
Ellen McDonagh gene: COG6 was added gene: COG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG6 were set to 27604308 Phenotypes for gene: COG6 were set to Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG5 Publications for gene COG5 were changed from 23228021; 23430875; 28960046; 19690088; 11980916 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh gene: COG5 was added gene: COG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 23228021; 23430875; 28960046; 19690088; 11980916 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh Added phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 for gene: COG4 Publications for gene COG4 were changed from 27604308 to 19651599; 21185756; 19494034; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh gene: COG4 was added gene: COG4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG4 were set to 27604308 Phenotypes for gene: COG4 were set to Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG2 |
Ellen McDonagh gene: COG2 was added gene: COG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG2 were set to 11980916; 24784932 Phenotypes for gene: COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG1 |
Ellen McDonagh Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1 Publications for gene COG1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG1 |
Ellen McDonagh gene: COG1 was added gene: COG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA6 |
Ellen McDonagh gene: COA6 was added gene: COA6 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to ?{Fatal infantile cardiomyopathy, association with}, 604377 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA5 |
Ellen McDonagh Added phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COA5 Publications for gene COA5 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA5 |
Ellen McDonagh gene: COA5 was added gene: COA5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA3 |
Ellen McDonagh gene: COA3 was added gene: COA3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA3 were set to Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPP | Ellen McDonagh Added phenotypes Perrault syndrome 3, 614129 for gene: CLPP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPP |
Ellen McDonagh gene: CLPP was added gene: CLPP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPB |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder for gene: CLPB Publications for gene CLPB were changed from PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 to 25597510; 25597511; 25650066; 25595726 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPB |
Ellen McDonagh gene: CLPB was added gene: CLPB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLN8 |
Ellen McDonagh gene: CLN8 was added gene: CLN8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLN6 |
Ellen McDonagh gene: CLN6 was added gene: CLN6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLN5 |
Ellen McDonagh gene: CLN5 was added gene: CLN5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLN3 |
Ellen McDonagh gene: CLN3 was added gene: CLN3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLDN19 |
Ellen McDonagh gene: CLDN19 was added gene: CLDN19 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 27604308 Phenotypes for gene: CLDN19 were set to Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLDN16 |
Ellen McDonagh gene: CLDN16 was added gene: CLDN16 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN16 were set to 27604308 Phenotypes for gene: CLDN16 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CISD2 |
Ellen McDonagh gene: CISD2 was added gene: CISD2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 27604308 Phenotypes for gene: CISD2 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1 Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh gene: CHSY1 was added gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 27604308 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST6 |
Ellen McDonagh Added phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6 Publications for gene CHST6 were changed from 16568029 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST6 |
Ellen McDonagh gene: CHST6 was added gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST6 were set to 16568029 Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3 Publications for gene CHST3 were changed from 27604308 to 20830804 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh gene: CHST3 was added gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 27604308 Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST14 Publications for gene CHST14 were changed from 26646600 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 26646600 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHKB | Ellen McDonagh Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CHKB |
Ellen McDonagh gene: CHKB was added gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CEP89 |
Ellen McDonagh gene: CEP89 was added gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to PMID: 23575228 Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CCDC115 | Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIo 616828 for gene: CCDC115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CCDC115 |
Ellen McDonagh gene: CCDC115 was added gene: CCDC115 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332 Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo 616828 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CBS |
Ellen McDonagh gene: CBS was added gene: CBS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CARS2 |
Ellen McDonagh gene: CARS2 was added gene: CARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CAD |
Ellen McDonagh gene: CAD was added gene: CAD was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAD were set to ?Congenital disorder of glycosylation, type Iz 616457 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CA5A |
Ellen McDonagh gene: CA5A was added gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 27604308 Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C19orf12 | Ellen McDonagh Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | C19orf12 |
Ellen McDonagh gene: C19orf12 was added gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 27604308 Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C12orf65 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65 Publications for gene C12orf65 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C12orf65 |
Ellen McDonagh gene: C12orf65 was added gene: C12orf65 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BTD | Ellen McDonagh Added phenotypes Biotinidase deficiency for gene: BTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | BTD |
Ellen McDonagh gene: BTD was added gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 27604308 Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA3 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3 Publications for gene BOLA3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA3 |
Ellen McDonagh gene: BOLA3 was added gene: BOLA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple Mitochondrial Dysfunctions Syndrome; Multiple mitochondrial dysfunctions syndrome 2, 614299; Disorders of iron homeostasis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCS1L | Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | BCS1L |
Ellen McDonagh gene: BCS1L was added gene: BCS1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 27604308 Phenotypes for gene: BCS1L were set to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDK |
Ellen McDonagh gene: BCKDK was added gene: BCKDK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDK were set to 27604308; 22956686 Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDHB |
Ellen McDonagh gene: BCKDHB was added gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 27604308 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDHA |
Ellen McDonagh gene: BCKDHA was added gene: BCKDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 27604308 Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia; BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BAAT |
Ellen McDonagh gene: BAAT was added gene: BAAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAAT were set to 27604308; 23415802 Phenotypes for gene: BAAT were set to Hypercholanemia, familial |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT7 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7 Publications for gene B4GALT7 were changed from 27827381 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT7 |
Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 27827381 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT1 |
Ellen McDonagh Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1 Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT1 |
Ellen McDonagh gene: B4GALT1 was added gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 27604308 Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh gene: B3GLCT was added gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 27604308 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GAT3 |
Ellen McDonagh Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GAT3 Publications for gene B3GAT3 were changed from 27871226; 26086840; 21763480 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GAT3 |
Ellen McDonagh gene: B3GAT3 was added gene: B3GAT3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 27871226; 26086840; 21763480 Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALT6 | Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALT6 |
Ellen McDonagh gene: B3GALT6 was added gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 23664117; 23664118 Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALNT2 | Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 for gene: B3GALNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALNT2 |
Ellen McDonagh gene: B3GALNT2 was added gene: B3GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AUH |
Ellen McDonagh gene: AUH was added gene: AUH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 27604308 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I; Methylglutaconic aciduria type I (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATPAF2 |
Ellen McDonagh Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2 Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATPAF2 |
Ellen McDonagh gene: ATPAF2 was added gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 27604308 Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex V deficiency; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP7B |
Ellen McDonagh gene: ATP7B was added gene: ATP7B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27604308 Phenotypes for gene: ATP7B were set to Wilson disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6V0A2 |
Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2 Publications for gene ATP6V0A2 were changed from 20301755 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6V0A2 |
Ellen McDonagh gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A2 were set to 20301755 Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5A1 |
Ellen McDonagh Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1 Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion). |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5A1 |
Ellen McDonagh gene: ATP5A1 was added gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 27604308 Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP13A2 |
Ellen McDonagh gene: ATP13A2 was added gene: ATP13A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATIC |
Ellen McDonagh gene: ATIC was added gene: ATIC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 27604308 Phenotypes for gene: ATIC were set to Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASS1 |
Ellen McDonagh gene: ASS1 was added gene: ASS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 27604308 Phenotypes for gene: ASS1 were set to Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias); Citrullinemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASPA |
Ellen McDonagh gene: ASPA was added gene: ASPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 27604308 Phenotypes for gene: ASPA were set to Canavan disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASL |
Ellen McDonagh gene: ASL was added gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 27604308 Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASAH1 |
Ellen McDonagh gene: ASAH1 was added gene: ASAH1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 27604308 Phenotypes for gene: ASAH1 were set to Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSB |
Ellen McDonagh gene: ARSB was added gene: ARSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to 27604308; 24816252 Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARG1 |
Ellen McDonagh gene: ARG1 was added gene: ARG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 27604308 Phenotypes for gene: ARG1 were set to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APTX | Ellen McDonagh Added phenotypes Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis for gene: APTX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | APTX |
Ellen McDonagh gene: APTX was added gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 27604308 Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APRT |
Ellen McDonagh gene: APRT was added gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 27604308 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOPT1 | Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: APOPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | APOPT1 |
Ellen McDonagh gene: APOPT1 was added gene: APOPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOC2 |
Ellen McDonagh gene: APOC2 was added gene: APOC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOC2 were set to 27604308 Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750; Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ANO10 | Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 for gene: ANO10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ANO10 |
Ellen McDonagh gene: ANO10 was added gene: ANO10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMT |
Ellen McDonagh gene: AMT was added gene: AMT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27604308 Phenotypes for gene: AMT were set to Glycine encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMPD1 |
Ellen McDonagh gene: AMPD1 was added gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27604308 Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMN |
Ellen McDonagh gene: AMN was added gene: AMN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMN were set to 27604308 Phenotypes for gene: AMN were set to Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism); Proteinuric renal disease; Unexplained kidney failure in young people |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMACR |
Ellen McDonagh gene: AMACR was added gene: AMACR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 27604308 Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG9 |
Ellen McDonagh Added phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 for gene: ALG9 Publications for gene ALG9 were changed from 27604308; 15148656; 25966638 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG9 |
Ellen McDonagh gene: ALG9 was added gene: ALG9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 27604308; 15148656; 25966638 Phenotypes for gene: ALG9 were set to Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh Added phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 for gene: ALG8 Publications for gene ALG8 were changed from 12480927; 15235028 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh gene: ALG8 was added gene: ALG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 12480927; 15235028 Phenotypes for gene: ALG8 were set to Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6 Publications for gene ALG6 were changed from 10914684 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh gene: ALG6 was added gene: ALG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG6 were set to 10914684 Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG3 |
Ellen McDonagh Added phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110 for gene: ALG3 Publications for gene ALG3 were changed from 27604308 to 15108280; 19862844 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG3 |
Ellen McDonagh gene: ALG3 was added gene: ALG3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 27604308 Phenotypes for gene: ALG3 were set to Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation); ALG3-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG2 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 for gene: ALG2 Publications for gene ALG2 were changed from 27604308 to 12684507; 23404334 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG2 |
Ellen McDonagh gene: ALG2 was added gene: ALG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to 27604308 Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14 Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh gene: ALG14 was added gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 27604308 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12 Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh gene: ALG12 was added gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 27604308 Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11 Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh gene: ALG11 was added gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG11 were set to 27604308; 22213132 Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh Added phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1 Publications for gene ALG1 were changed from 27604308 to 22966035; 14973782; 26931382 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh gene: ALG1 was added gene: ALG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG1 were set to 27604308 Phenotypes for gene: ALG1 were set to Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDOB |
Ellen McDonagh gene: ALDOB was added gene: ALDOB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 27604308 Phenotypes for gene: ALDOB were set to hereditary fructose intolerance; Hereditary fructose intolerance (Disorders of fructose metabolism); acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDOA |
Ellen McDonagh gene: ALDOA was added gene: ALDOA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 27604308 Phenotypes for gene: ALDOA were set to Glycogen Storage Disease; Aldolase A deficiency (Glycogen storage disorders); Glycogen storage disease XII, 611881 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH7A1 |
Ellen McDonagh gene: ALDH7A1 was added gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 27604308 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH6A1 |
Ellen McDonagh gene: ALDH6A1 was added gene: ALDH6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 27604308 Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency 614105; 3-Hydroxyisobutyric aciduria (Organic acidurias); Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH5A1 |
Ellen McDonagh gene: ALDH5A1 was added gene: ALDH5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 27604308 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH4A1 |
Ellen McDonagh gene: ALDH4A1 was added gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 27604308 Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH3A2 |
Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 27604308 Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH18A1 |
Ellen McDonagh gene: ALDH18A1 was added gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 27604308; 24816252 Phenotypes for gene: ALDH18A1 were set to Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALAD |
Ellen McDonagh gene: ALAD was added gene: ALAD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 27604308 Phenotypes for gene: ALAD were set to {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias); Porphyria, acute hepatic 612740 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AKR1D1 |
Ellen McDonagh gene: AKR1D1 was added gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 27604308; 24816252 Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AHCY |
Ellen McDonagh gene: AHCY was added gene: AHCY was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 27604308 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGXT |
Ellen McDonagh gene: AGXT was added gene: AGXT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 27604308 Phenotypes for gene: AGXT were set to Primary hyperoxaluria type I (Other peroxisomal disorders); Primary hyperoxaluria type I (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGPS |
Ellen McDonagh gene: AGPS was added gene: AGPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 27604308 Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGL |
Ellen McDonagh gene: AGL was added gene: AGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 27604308 Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen storage disease IIIb, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGK |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis); Sengers syndrome, 212350; Sengers syndrome 212350; Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691 for gene: AGK Publications for gene AGK were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGK |
Ellen McDonagh gene: AGK was added gene: AGK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Mitochondrial DNA depletion syndrome 10; Sengers syndrome, 212350; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGA |
Ellen McDonagh gene: AGA was added gene: AGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 27604308 Phenotypes for gene: AGA were set to Aspartylglucosaminuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADSL |
Ellen McDonagh gene: ADSL was added gene: ADSL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 27604308 Phenotypes for gene: ADSL were set to Intellectual disability; Epileptic encephalopathy; Adenylosuccinate lyase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADA |
Ellen McDonagh gene: ADA was added gene: ADA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 27604308 Phenotypes for gene: ADA were set to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACY1 |
Ellen McDonagh gene: ACY1 was added gene: ACY1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 27604308 Phenotypes for gene: ACY1 were set to Intellectual disability; Aminoacylase 1 deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACSF3 |
Ellen McDonagh gene: ACSF3 was added gene: ACSF3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 27604308 Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACOX1 |
Ellen McDonagh gene: ACOX1 was added gene: ACOX1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX1 were set to 27604308 Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency; Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACO2 | Ellen McDonagh Added phenotypes Infantile cerebellar-retinal degeneration, 614559 for gene: ACO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | ACO2 |
Ellen McDonagh gene: ACO2 was added gene: ACO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAT1 |
Ellen McDonagh gene: ACAT1 was added gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 27604308 Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADVL |
Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308 Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADSB |
Ellen McDonagh gene: ACADSB was added gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 27604308 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADS |
Ellen McDonagh gene: ACADS was added gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 27604308; 24816252 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADM |
Ellen McDonagh gene: ACADM was added gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27604308; 24816252 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD8 |
Ellen McDonagh gene: ACAD8 was added gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 27604308 Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABHD5 |
Ellen McDonagh gene: ABHD5 was added gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 27604308 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 27604308 Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG8 |
Ellen McDonagh gene: ABCG8 was added gene: ABCG8 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG8 were set to 27604308 Phenotypes for gene: ABCG8 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG5 |
Ellen McDonagh gene: ABCG5 was added gene: ABCG5 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG5 were set to 27604308 Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCD4 |
Ellen McDonagh gene: ABCD4 was added gene: ABCD4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635 Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB11 |
Ellen McDonagh gene: ABCB11 was added gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 27604308 Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCA1 |
Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 27604308 Phenotypes for gene: ABCA1 were set to Tangier disease (Disorders of high density lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh gene: ABAT was added gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AASS |
Ellen McDonagh gene: AASS was added gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 27604308 Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2 Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.1 | Ellen McDonagh List of related panels changed from to Likely inborn error of metabolism - targeted testing not possible; GMS R98 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.0 |
Ellen McDonagh Added Panel Inborn errors of metabolism Set panel types to: GMS Rare Disease Virtual |