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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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)
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
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.
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
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)
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
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
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
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
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)
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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
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
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
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)
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
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
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
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)
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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)
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
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
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)
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)
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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)
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)
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)
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
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)
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)
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
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
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
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
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
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)
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
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
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
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
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
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
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
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)
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
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)
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)
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)
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
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
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
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
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
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)
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)
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
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
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)
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)
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
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)
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)
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
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
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
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
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
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
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
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)
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
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
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
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
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)
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
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
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
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)
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
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
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)
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
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
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)
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)
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)
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
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)
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
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
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
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
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
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
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
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
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
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))
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
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)
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
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
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)
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)
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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
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
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
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
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)
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)
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
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
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)
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
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
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
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
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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)
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
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
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
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
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)
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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)
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)
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
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)
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
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
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)
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
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
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
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
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
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
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
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))
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
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
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
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
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)
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
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)
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
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
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
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
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
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
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
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
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)
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
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
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)
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
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)
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)
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
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
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
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)
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
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
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
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
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)
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)
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.
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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)
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)
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
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)
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)
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
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
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
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
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)
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
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
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)
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)
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
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
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
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
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
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
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
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)
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
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)
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
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)
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
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
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
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)
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
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
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)
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)
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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)
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
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
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)
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
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))
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)
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
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
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
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)
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)
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
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))
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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
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
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)
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
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
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)
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
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)
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
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
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
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)
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
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)
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)
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
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
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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
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
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
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
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
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))
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)
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)
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
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
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.
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
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
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))
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
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
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
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
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
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)
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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)
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)
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)
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
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
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)
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
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.
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
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
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
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
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
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
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)
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
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)
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
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
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
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)
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
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)
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
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))
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)
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)
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
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
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
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)
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)
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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)
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)
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
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)
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
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)
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
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
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
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
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)
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
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
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)
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
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
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
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))
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
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
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
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
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
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).
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))
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)
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
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
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
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)
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
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
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
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
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
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
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
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
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
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)
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
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)
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)
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
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
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))
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)
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
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
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)
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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)
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
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
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)
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)
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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
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)
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
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
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
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)
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
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)
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
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
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
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
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))
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
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
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
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
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
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)
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)
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)
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
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
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
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
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
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
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)
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
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)
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)
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
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
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
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
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
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
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
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
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
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)
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)
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
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)
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
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
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
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)
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
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
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)
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
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)
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)
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
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)
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
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
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
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)
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
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
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
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)
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
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
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
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
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
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
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
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)
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
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
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)
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
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
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))
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
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
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)
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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)
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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)
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)
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
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
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)
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
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
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
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)
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
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)
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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)
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
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
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)
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
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
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
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)
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
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)
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
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
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)
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
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
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
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
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
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).
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
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
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)
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
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
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)
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
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)
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
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
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
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)
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
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)
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
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
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
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
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)
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
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
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
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
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
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)
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
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)
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
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
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
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)
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
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)
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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)
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
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)
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
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
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
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
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)
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
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)
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
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)
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
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)
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)
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)
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
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)
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
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
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)
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)
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)
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
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
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
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
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)
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
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
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)
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
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
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