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Likely inborn error of metabolism - targeted testing not possible v4.137 ADA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: 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 v4.137 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700 to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Likely inborn error of metabolism - targeted testing not possible v4.136 ADA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: 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 v4.136 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Likely inborn error of metabolism - targeted testing not possible v4.134 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from 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); Glycogen storage disease Ia; fasting intolerance with enlarged liver, renal tubular disease to Glycogen storage disease Ia, OMIM:232200
Likely inborn error of metabolism - targeted testing not possible v4.133 CYCS Arina Puzriakova Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Likely inborn error of metabolism - targeted testing not possible v4.132 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Tag Q1_22_NHS_review tag was added to gene: RNASEH2C.
Tag Q1_24_promote_green tag was added to gene: RNASEH2C.
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Tag Q1_24_promote_green tag was added to gene: RNASEH2B.
Tag Q1_24_NHS_review tag was added to gene: RNASEH2B.
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh Tag Q1_24_promote_green tag was added to gene: RNASEH2A.
Tag Q1_24_NHS_review tag was added to gene: RNASEH2A.
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2C Sarah Leigh edited their review of gene: RNASEH2C: Added comment: Saikat Santra (Birmingham Children's Hospital)(23 Jan 2024), has suggested that this gene should be green on this panel - R98.; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2B Sarah Leigh edited their review of gene: RNASEH2B: Added comment: Saikat Santra (Birmingham Children's Hospital)(23 Jan 2024), has suggested that this gene should be green on this panel - R98.; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.131 RNASEH2A Sarah Leigh edited their review of gene: RNASEH2A: Added comment: Saikat Santra (Birmingham Children's Hospital)(23 Jan 2024), has suggested that this gene should be green on this panel - R98.; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.131 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Likely inborn error of metabolism - targeted testing not possible v4.131 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.130 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Likely inborn error of metabolism - targeted testing not possible v4.130 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28554942; 28544275
Likely inborn error of metabolism - targeted testing not possible v4.129 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.129 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Likely inborn error of metabolism - targeted testing not possible v4.129 TUSC3 Arina Puzriakova Publications for gene: TUSC3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.128 TUSC3 Arina Puzriakova Phenotypes for gene: TUSC3 were changed from TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Likely inborn error of metabolism - targeted testing not possible v4.127 HSD17B10 Arina Puzriakova Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308
Likely inborn error of metabolism - targeted testing not possible v4.126 HSD17B10 Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438
Likely inborn error of metabolism - targeted testing not possible v4.125 GSTZ1 Achchuthan Shanmugasundram Classified gene: GSTZ1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.125 GSTZ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:27876694 and reviewed by Saikat Santra, there are three boys and three girls with maleylacetoacetate isomerase deficiency (MAAID), identified by newborn screening with mildly elevated succinylacetone (SA) by mass spectrometry on dried blood spot.

Four of them were identified with homozygous GSTZ1 variants, one with compound heterozygous variants and one with heterozygous variant.

Hence, there is sufficient evidence available for the association of biallelic GSTZ1 variants with MAAID and this gene can be promoted to green rating in the next GMS review.
Likely inborn error of metabolism - targeted testing not possible v4.125 GSTZ1 Achchuthan Shanmugasundram Gene: gstz1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.124 GSTZ1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with maleylacetoacetate isomerase deficiency in OMIM (MIM #617596), but not with any phenotypes in Gene2Phenotype.
Likely inborn error of metabolism - targeted testing not possible v4.124 GSTZ1 Achchuthan Shanmugasundram Phenotypes for gene: GSTZ1 were changed from Biochemical to [Maleylacetoacetate isomerase deficiency], OMIM:617596
Likely inborn error of metabolism - targeted testing not possible v4.123 GSTZ1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: GSTZ1.
Tag Q1_24_NHS_review tag was added to gene: GSTZ1.
Likely inborn error of metabolism - targeted testing not possible v4.123 GSTZ1 Achchuthan Shanmugasundram reviewed gene: GSTZ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: [Maleylacetoacetate isomerase deficiency], OMIM:617596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.123 PRODH Arina Puzriakova Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400 to Hyperprolinemia, type I, OMIM:239500; hyperprolinemia type 1, MONDO:0009400
Likely inborn error of metabolism - targeted testing not possible v4.122 RNASEH2A Saikat Santra reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.122 RNASEH2B Saikat Santra reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.122 RNASEH2C Saikat Santra reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.122 SLC6A20 Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: SLC6A20.
Likely inborn error of metabolism - targeted testing not possible v4.122 GSTZ1 Saikat Santra edited their review of gene: GSTZ1: Changed phenotypes to: Biochemical: hypersuccinylacetonaemia
Likely inborn error of metabolism - targeted testing not possible v4.122 GSTZ1 Saikat Santra gene: GSTZ1 was added
gene: GSTZ1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review,Eligibility statement prior genetic testing
Mode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSTZ1 were set to 27876694
Phenotypes for gene: GSTZ1 were set to Biochemical
Penetrance for gene: GSTZ1 were set to unknown
Review for gene: GSTZ1 was set to GREEN
Added comment: GSTZ1 is established as the molecular cause for maleylacetoacetate isomerase deficiency which is an established inherited metabolic disorder and associated with succinylacetone excretion so may be detected on newborn screening programmes for hereditary tyrosinaemia type1 (FAH). The committee established for developing the pathways for rolling this out recommended that genetic testing for GSTZ1 be made available via the R98 panel to help evaluate patients with mild hypersuccinylacetonaemia - but patients with elevated succinylacetone on routine metabolic testing would also benefit from this being available.
Sources: Literature, Expert Review, Eligibility statement prior genetic testing
Likely inborn error of metabolism - targeted testing not possible v4.122 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.122 COX5A Sarah Leigh Classified gene: COX5A as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.122 COX5A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.122 COX5A Sarah Leigh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.121 COX5A Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX5A.
Likely inborn error of metabolism - targeted testing not possible v4.121 COX5A Sarah Leigh Mode of inheritance for gene: COX5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.120 COX5A Sarah Leigh Phenotypes for gene: COX5A were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Likely inborn error of metabolism - targeted testing not possible v4.119 COX5A Sarah Leigh Publications for gene: COX5A were set to
Likely inborn error of metabolism - targeted testing not possible v4.118 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.118 VPS33A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.118 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.117 VPS33A Sarah Leigh gene: VPS33A was added
gene: VPS33A was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Q4_23_promote_green tags were added to gene: VPS33A.
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33A were set to 28013294; 27547915; 31070736
Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Review for gene: VPS33A was set to GREEN
Added comment: This gene has been copied from Lysosomal storage disorder panel:
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian population. Supportive functional studies were also presented (PMID 31070736).
Sarah Leigh (Genomics England Curator), 17 Mar 2021
Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction. Sources: Expert list
Zornitza Stark (Australian Genomics), 22 Jul 2020
Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.116 VPS16 Sarah Leigh Classified gene: VPS16 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.116 VPS16 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.116 VPS16 Sarah Leigh Gene: vps16 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.115 VPS16 Sarah Leigh Added comment: Comment on mode of inheritance: Biallelic variants are associated with a phenotype resembling a lysosomal storage disease. There are sufficient families (3) and functional data showing defects in the endolysosomal trafficking system to support inclusion for this allelic requirement. Monoallelic variants are linked to dystonia but only one study performed further analyses that suggested lysosomal dysfunction. Therefore while possible, it is unclear whether the 'Lysosomal storage disorder' panel would be applied in these cases. VPS16 will be flagged for GMS review with regards to the most appropriate MOI on this panel (biallelic or both bilalleic/monoallelic)
Arina Puzriakova (Genomics England Curator), 14 Jun 2021
Likely inborn error of metabolism - targeted testing not possible v4.115 VPS16 Sarah Leigh Mode of inheritance for gene: VPS16 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.114 VPS16 Sarah Leigh gene: VPS16 was added
gene: VPS16 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Q4_23_promote_green tags were added to gene: VPS16.
Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS16 were set to 33938619; 34013567
Phenotypes for gene: VPS16 were set to Mucopolysaccharidosis-like syndrome (biallelic); Dystonia Associated with Lysosomal Abnormalities (monoallelic); Dystonia 30, OMIM:619291
Review for gene: VPS16 was set to GREEN
Added comment: Copied from Lysosomal storage disorder panel: Four individuals from three families were identified (PMIDs: 33938619; 34013567) exhibiting a mucopolysaccharidosis (MPS)-like lysosomal storage phenotype with short stature, coarse facies, DD or regression, peripheral neuropathy, skeletal dysplasia, neutropenia, and high-normal glycosaminoglycan excretion. All harboured homozygous variants in VPS16 which segregated with disease, including a missense variant in a sib pair (c.540G>T; p.Trp180Cys) and a recurrent intronic variant (c.2272‐18C>A) in two supposedly unrelated patients (although both of Middle Eastern descent). Fibroblasts of the two patients with the intronic variant showed accumulation of lysosomal compartments and autophagosomes with significantly decreased VPS16 mRNA and protein levels, as well as HOPS/CORVET complexes. Cellular phenotypes were rescued upon re-expression of wild-type VPS16. ----- Heterozygous variants, as well as a homozygous missense variant (c.156C>A) found in a consanguineous Chinese family (PMID:27174565), have been found to cause dystonia with variable onset (OMIM:619291). It has been suggested that the discrepancies in patient phenotypes are due to different mechanisms of pathogenicity, where variants causing dystonia do not affect the levels of endolysosomal tethering (HOPS/CORVET) complexes. More research is needed to clarify the mechanisms underlying VPS16-related dystonia as only limited functional data is currently available - Steel et al. 2020 (PMID:32808683) did perform electron microscopic studies of lymphocytes and fibroblasts derived from 2 unrelated patients, which showed vacuolar abnormalities suggestive of impaired lysosomal function. Sources: Literature
Arina Puzriakova (Genomics England Curator), 14 Jun 2021
Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.113 CLCN7 Sarah Leigh Entity copied from Lysosomal storage disorder v3.3
Likely inborn error of metabolism - targeted testing not possible v4.113 CLCN7 Sarah Leigh gene: CLCN7 was added
gene: CLCN7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: CLCN7.
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Mode of pathogenicity for gene: CLCN7 was set 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 v4.112 KCTD7 Sarah Leigh gene: KCTD7 was added
gene: KCTD7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
Review for gene: KCTD7 was set to RED
Added comment: Although this gene is rated as Green on the Neuronal ceroid lipofuscinosis panel, it is not considered to be a metabolic gene and so is rated Red on this panel.
Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.111 GRN Sarah Leigh Tag Q4_22_promote_green was removed from gene: GRN.
Tag Q4_23_promote_green tag was added to gene: GRN.
Likely inborn error of metabolism - targeted testing not possible v4.111 GRN Sarah Leigh reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.111 GRN Sarah Leigh Entity copied from Neuronal ceroid lipofuscinosis v2.6
Likely inborn error of metabolism - targeted testing not possible v4.111 GRN Sarah Leigh gene: GRN was added
gene: GRN was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,NHS GMS,London North GLH
Q4_22_promote_green tags were added to gene: GRN.
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRN were set to 22608501; 27021778; 28000352; 28404863; 30922528; 31855245
Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
Likely inborn error of metabolism - targeted testing not possible v4.110 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: Emma Ashton (Great Ormond Street Hospital) ([email protected]); Variants in this GENE are reported as part of current diagnostic practice.; Changed rating: GREEN; Set current diagnostic: yes
Likely inborn error of metabolism - targeted testing not possible v4.110 CTSF Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.110 CTSF Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.110 CTSF Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.109 CTSF Sarah Leigh gene: CTSF was added
gene: CTSF was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list
Q4_23_promote_green tags were added to gene: CTSF.
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to 23297359; 25274848
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Likely inborn error of metabolism - targeted testing not possible v4.108 CLCN6 Sarah Leigh edited their review of gene: CLCN6: Added comment: PMID 33217309 reports gain of function associated with CLCN6 variants.; Changed mode of pathogenicity: 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 v4.108 CLCN6 Sarah Leigh commented on gene: CLCN6: Although this gene is rated as Green on the Neuronal ceroid lipofuscinosis panel, it is not considered to be a metabolic gene and so is rated Red on this panel.
Likely inborn error of metabolism - targeted testing not possible v4.108 CLCN6 Sarah Leigh gene: CLCN6 was added
gene: CLCN6 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870
Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Review for gene: CLCN6 was set to RED
Added comment: Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.107 LMF1 Sarah Leigh Classified gene: LMF1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.107 LMF1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.107 LMF1 Sarah Leigh Gene: lmf1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.106 LMF1 Sarah Leigh changed review comment from: PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity. PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segrates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.; to: PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity. PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segregates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.
Likely inborn error of metabolism - targeted testing not possible v4.106 LMF1 Sarah Leigh commented on gene: LMF1: PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity. PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segrates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.
Likely inborn error of metabolism - targeted testing not possible v4.106 LMF1 Sarah Leigh gene: LMF1 was added
gene: LMF1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list
Q4_23_promote_green tags were added to gene: LMF1.
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMF1 were set to 17994020; 19820022; 30885219; 30420299; 29910226; 22239554
Phenotypes for gene: LMF1 were set to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Review for gene: LMF1 was set to GREEN
gene: LMF1 was marked as current diagnostic
Added comment: LMF1 Familial chylomicronaemia syndrome (FCS) panel.
Maggie Williams (North Bristol NHS Trust) [email protected]: Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert list
Likely inborn error of metabolism - targeted testing not possible v4.105 GPIHBP1 Sarah Leigh Classified gene: GPIHBP1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.105 GPIHBP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.105 GPIHBP1 Sarah Leigh Gene: gpihbp1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.104 GPIHBP1 Sarah Leigh gene: GPIHBP1 was added
gene: GPIHBP1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list
Q4_23_promote_green tags were added to gene: GPIHBP1.
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412
Review for gene: GPIHBP1 was set to GREEN
Added comment: GPIHBP1 copied from Familial chylomicronaemia syndrome (FCS) panel.
Maggie Williams (North Bristol NHS Trust)([email protected]): Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert list
Likely inborn error of metabolism - targeted testing not possible v4.103 OSTC Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism - targeted testing not possible v4.103 OSTC Sarah Leigh gene: OSTC was added
gene: OSTC was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Likely inborn error of metabolism - targeted testing not possible v4.102 EDEM3 Sarah Leigh Classified gene: EDEM3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.102 EDEM3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.102 EDEM3 Sarah Leigh Gene: edem3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.101 EDEM3 Sarah Leigh gene: EDEM3 was added
gene: EDEM3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Q4_23_promote_green tags were added to gene: EDEM3.
Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDEM3 were set to 34143952
Phenotypes for gene: EDEM3 were set to Congenital disorder of glycosylation, type 2V, OMIM:619493
Review for gene: EDEM3 was set to GREEN
Added comment: Reviews copied from entry on Congenital disorders of glycosylation panel.
There is sufficient evidence to promote this gene to Green at the next GMS panel update. EDEM3 is associated with a relevant phenotype in OMIM (MIM# 619493) and G2P with a 'strong' confidence level assertion. 12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms. (Arina Puzriakova (Genomics England Curator), 18 Jul 2022).
PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional studies show loss of EDEM3 enzymatic activity. Sources: Literature (Zornitza Stark (Australian Genomics), 7 Aug 2021).
Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.100 CAMLG Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism - targeted testing not possible v4.100 CAMLG Sarah Leigh gene: CAMLG was added
gene: CAMLG was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201
Likely inborn error of metabolism - targeted testing not possible v4.99 ALG10 Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism - targeted testing not possible v4.99 ALG10 Sarah Leigh gene: ALG10 was added
gene: ALG10 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG10 were set to 33798445
Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG
Likely inborn error of metabolism - targeted testing not possible v4.98 MAN2B2 Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism - targeted testing not possible v4.98 MAN2B2 Sarah Leigh gene: MAN2B2 was added
gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018; 35637269
Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286
Likely inborn error of metabolism - targeted testing not possible v4.97 COG3 Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism - targeted testing not possible v4.97 COG3 Sarah Leigh gene: COG3 was added
gene: COG3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to 37711075
Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546
Likely inborn error of metabolism - targeted testing not possible v4.96 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
Likely inborn error of metabolism - targeted testing not possible v4.95 NUS1 Achchuthan Shanmugasundram Classified gene: NUS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.95 NUS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of monoallelic NUS1 variants with intellectual disability and epilepsy, this gene can be promoted to green rating in the next GMS review.
Likely inborn error of metabolism - targeted testing not possible v4.95 NUS1 Achchuthan Shanmugasundram Gene: nus1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.94 NUS1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Dmitrijs Rots, there are more than three unrelated cases and functional evidence available in support of the association of monoallelic NUS1 variants with intellectual disability and epilepsy. This autosomal dominant disorder has been recorded in both OMIM (MIM #617831) and Gene2Phenotype (with 'strong' rating in the DD panel).

However, there is only one family and supporting functional evidence available for the association of biallelic variants with congenital disorder of glycosylation. This phenotype has already been recorded in OMIM (MIM #617082), but not in Gene2Phenotype.

Hence, the MOI should be updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Likely inborn error of metabolism - targeted testing not possible v4.94 NUS1 Achchuthan Shanmugasundram Mode of inheritance for gene: NUS1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v4.93 NUS1 Achchuthan Shanmugasundram Publications for gene: NUS1 were set to 25066056; 31656175; 32334381; 32485575; 33731878
Likely inborn error of metabolism - targeted testing not possible v4.93 NUS1 Achchuthan Shanmugasundram Publications for gene: NUS1 were set to 25066056
Likely inborn error of metabolism - targeted testing not possible v4.92 NUS1 Achchuthan Shanmugasundram Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa OMIM:617082; congenital disorder of glycosylation, type IAA MONDO:0014904 to Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831; ?Congenital disorder of glycosylation, type 1aa, OMIM:617082
Likely inborn error of metabolism - targeted testing not possible v4.91 NUS1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NUS1.
Likely inborn error of metabolism - targeted testing not possible v4.91 NUS1 Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831, ?Congenital disorder of glycosylation, type 1aa, OMIM:617082; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v4.91 ATP5E Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ATP5E.
Likely inborn error of metabolism - targeted testing not possible v4.91 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Likely inborn error of metabolism - targeted testing not possible v4.90 ATP5E Sarah Leigh edited their review of gene: ATP5E: Added comment: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; Changed rating: GREEN; Changed publications to: 27604308, 34954817, 20566710
Likely inborn error of metabolism - targeted testing not possible v4.90 ASL Eleanor Williams Publications for gene: ASL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.89 ASL Eleanor Williams Phenotypes for gene: ASL were changed from Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815
Likely inborn error of metabolism - targeted testing not possible v4.88 LDHD Sarah Leigh edited their review of gene: LDHD: Added comment: LDHD variants have been associated with D-lactic aciduria with susceptibility to gout (OMIM:245450), but not with a phenotype in Gen2Phen. At least seven LDHD variants have been reported in seven unrelated cases (PMID: 30931947;31638601;34258137;37021930).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.88 LDHD Sarah Leigh Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout, OMIM:245450 to D-lactic aciduria with susceptibility to gout, OMIM:245450; lactic aciduria due to D-lactic acid, MONDO:0009505
Likely inborn error of metabolism - targeted testing not possible v4.87 LDHD Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.87 LDHD Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.87 LDHD Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.86 LDHD Sarah Leigh Publications for gene: LDHD were set to 30931947; 31638601
Likely inborn error of metabolism - targeted testing not possible v4.85 LDHD Sarah Leigh Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout to D-lactic aciduria with susceptibility to gout, OMIM:245450
Likely inborn error of metabolism - targeted testing not possible v4.84 LDHD Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.84 LDHD Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.84 LDHD Sarah Leigh Classified gene: LDHD as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.84 LDHD Sarah Leigh Gene: ldhd has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.83 ACACA Sarah Leigh Publications for gene: ACACA were updated from 6114432; 16103361; 34552920; 36709796 to 6114432; 34552920; 36709796
Likely inborn error of metabolism - targeted testing not possible v4.82 ACACA Sarah Leigh Publications for gene: ACACA were set to 6114432; 34552920; 36709796
Likely inborn error of metabolism - targeted testing not possible v4.81 ACACA Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ACACA.
Tag Q4_23_NHS_review tag was added to gene: ACACA.
Likely inborn error of metabolism - targeted testing not possible v4.81 ACACA Sarah Leigh reviewed gene: ACACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.81 ACACA Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796
Likely inborn error of metabolism - targeted testing not possible v4.80 ACACA Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796
Likely inborn error of metabolism - targeted testing not possible v4.80 ACACA Sarah Leigh Publications for gene: ACACA were set to 34552920
Likely inborn error of metabolism - targeted testing not possible v4.79 ACACA Sarah Leigh Phenotypes for gene: ACACA were changed from Acetyl-CoA carboxylase deficiency to Acetyl-CoA carboxylase deficiency, OMIM: 613933
Likely inborn error of metabolism - targeted testing not possible v4.78 ACACA Sarah Leigh Classified gene: ACACA as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.78 ACACA Sarah Leigh Gene: acaca has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.77 LDHD Hannah Knight gene: LDHD was added
gene: LDHD was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature
Mode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHD were set to 30931947; 31638601
Phenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout
Review for gene: LDHD was set to AMBER
Added comment: PMID: 30931947 (2019) reported two unrelated patients with homozygous missense variants in LDHD (p.Thr463Met and p.Trp374Cys)
PMID: 31638601 (2019) reported a 4-generation consanguineous Bedouin-Israeli family with autosomal recessive hyperuricemia. A homozygous missense variant in LDHD was identified (p.R370W)
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v4.77 ACACA Hannah Knight gene: ACACA was added
gene: ACACA was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature
Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACACA were set to 34552920
Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency
Review for gene: ACACA was set to AMBER
Added comment: PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v4.77 ATP5B Sarah Leigh commented on gene: ATP5B: In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh Tag promoter tag was added to gene: PIGM.
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh edited their review of gene: PIGM: Added comment: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G)(rs587776528) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition.
To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations.
Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: PIGM.
Tag Q4_23_promote_green tag was added to gene: PIGM.
Tag Q4_23_NHS_review tag was added to gene: PIGM.
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.77 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.76 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Glycosylphosphatidylinositol deficiency 610293 to Glycosylphosphatidylinositol deficiency, OMIM:610293
Likely inborn error of metabolism - targeted testing not possible v4.75 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906
Likely inborn error of metabolism - targeted testing not possible v4.74 PIGM Hannah Knight reviewed gene: PIGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 31445883; Phenotypes: Glycosylphosphatidylinositol deficiency 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.74 HSPA9 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.74 HSPA9 Achchuthan Shanmugasundram Classified gene: HSPA9 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.74 HSPA9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.74 HSPA9 Achchuthan Shanmugasundram Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.73 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, OMIM:616854 to Even-plus syndrome, OMIM:616854
Likely inborn error of metabolism - targeted testing not possible v4.72 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome 616854 to Even-plus syndrome, OMIM:616854
Likely inborn error of metabolism - targeted testing not possible v4.71 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Likely inborn error of metabolism - targeted testing not possible v4.71 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Likely inborn error of metabolism - targeted testing not possible v4.70 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to PMID: 26598328
Likely inborn error of metabolism - targeted testing not possible v4.69 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HSPA9.
Tag Q4_23_NHS_review tag was added to gene: HSPA9.
Likely inborn error of metabolism - targeted testing not possible v4.69 HSPA9 Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.69 ATP5B Sarah Leigh Classified gene: ATP5B as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.69 ATP5B Sarah Leigh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.68 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.68 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Likely inborn error of metabolism - targeted testing not possible v4.67 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v4.66 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Likely inborn error of metabolism - targeted testing not possible v4.65 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Likely inborn error of metabolism - targeted testing not possible v4.64 PTCD3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PTCD3.
Likely inborn error of metabolism - targeted testing not possible v4.64 PTCD3 Sarah Leigh edited their review of gene: PTCD3: Added comment: PTCD3 variants are associated with ?Combined oxidative phosphorylation deficiency 51 (OMIM:619057), but not associated with phenotype in Gen2Phen. At least six variants have been reported in three unrelated cases, with OMIM:619057 (PMID: 30607703; 36450274). Functional studies also support the involvement of PTCD3 variants in this condition (PMID: 30607703; 36450274).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.64 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057; combined oxidative phosphorylation deficiency 51, MONDO:0033631
Likely inborn error of metabolism - targeted testing not possible v4.63 PTCD3 Sarah Leigh Classified gene: PTCD3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.63 PTCD3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.63 PTCD3 Sarah Leigh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.62 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from low birth weight, mental retardation, and optic atrophy to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Likely inborn error of metabolism - targeted testing not possible v4.61 PTCD3 Sarah Leigh Publications for gene: PTCD3 were set to 30607703; 30706245
Likely inborn error of metabolism - targeted testing not possible v4.60 MRM2 Sarah Leigh Publications for gene: MRM2 were set to 28973171
Likely inborn error of metabolism - targeted testing not possible v4.59 MRM2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2.
Likely inborn error of metabolism - targeted testing not possible v4.59 MRM2 Sarah Leigh edited their review of gene: MRM2: Added comment: MRM2 variants have been associated with ?Mitochondrial DNA depletion syndrome 17 (OMIM:618567), but not associated with phenotype in Gen2Phen. To date three biallelic MRM2 variants have been reported three unrelated cases (PMID: 28973171;36002240), supportive yeast functional studies have also been presented (PMID: 36002240).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.59 MRM2 Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.59 MRM2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.59 MRM2 Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.58 SEC23B Arina Puzriakova Tag Q4_23_MOI tag was added to gene: SEC23B.
Likely inborn error of metabolism - targeted testing not possible v4.58 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) to Dyserythropoietic anemia, congenital, type II, OMIM:224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Likely inborn error of metabolism - targeted testing not possible v4.57 SEC23B Arina Puzriakova Added comment: Comment on mode of inheritance: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is). Biallelic phenotype remains relevant to this panel (PMID: 35163229).

On this basis, the MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel update.
Likely inborn error of metabolism - targeted testing not possible v4.57 SEC23B Arina Puzriakova Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.56 SEC23B Arina Puzriakova Publications for gene: SEC23B were set to 22208203
Likely inborn error of metabolism - targeted testing not possible v4.55 HSPA9 Hannah Knight reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome 616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.55 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism - targeted testing not possible v4.55 SLC6A20 Eleanor Williams commented on gene: SLC6A20: Added the gene-checked tag as this is the right gene on the panel, even though it probably should be demoted.
Likely inborn error of metabolism - targeted testing not possible v4.55 SLC6A20 Eleanor Williams Tag gene-checked tag was added to gene: SLC6A20.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND3.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Likely inborn error of metabolism - targeted testing not possible v4.52 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Tag Q4_23_demote_red tag was added to gene: SLC6A20.
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Sarah Leigh edited their review of gene: SLC6A20: Added comment: The gene disease associations of SLC6A20 with Hyperglycinuria (OMIM:138500) and Iminoglycinuria, digenic (OMIM:242600) have been refuted in OMIM. The single SLC6A20 variant rs17279437 has been reclassified as a polymorphism, because it is present in 19,986 of 278,932 alleles and in 856 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.07165 (Personal Communication to OMIM from Hamosh, A. Baltimore, Md. 3rd April 2023).; Changed rating: RED; Changed phenotypes to: Hyperglycinuria 138500, Iminoglycinuria, digenic 242600
Likely inborn error of metabolism - targeted testing not possible v4.52 SLC6A20 Eleanor Williams commented on gene: SLC6A20
Likely inborn error of metabolism - targeted testing not possible v4.52 GCSH Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
Likely inborn error of metabolism - targeted testing not possible v4.51 SPG7 Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: SPG7.
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2.
Likely inborn error of metabolism - targeted testing not possible v4.51 OGDH Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: OGDH.
Likely inborn error of metabolism - targeted testing not possible v4.51 LETM1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: LETM1.
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GCSH.
Likely inborn error of metabolism - targeted testing not possible v4.51 CRLS1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: CRLS1.
Likely inborn error of metabolism - targeted testing not possible v4.51 ATP5O Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ATP5O.
Likely inborn error of metabolism - targeted testing not possible v4.51 SPG7 Arina Puzriakova reviewed gene: SPG7: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Arina Puzriakova reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 OGDH Arina Puzriakova reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 LETM1 Arina Puzriakova reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 GCSH Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 CRLS1 Arina Puzriakova reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.51 ATP5O Arina Puzriakova commented on gene: ATP5O: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism - targeted testing not possible v4.50 SPG7 Achchuthan Shanmugasundram Mode of inheritance for gene SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.50 PNPLA2 Achchuthan Shanmugasundram Source NHS GMS was added to PNPLA2.
Source Expert Review Green was added to PNPLA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 OGDH Achchuthan Shanmugasundram Source Expert Review Green was added to OGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 LETM1 Achchuthan Shanmugasundram Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 GCSH Achchuthan Shanmugasundram Source Expert Review Green was added to GCSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 CRLS1 Achchuthan Shanmugasundram Source NHS GMS was added to CRLS1.
Source Expert Review Green was added to CRLS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.50 ATP5O Achchuthan Shanmugasundram Source NHS GMS was added to ATP5O.
Source Expert Review Green was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Likely inborn error of metabolism - targeted testing not possible v4.49 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Likely inborn error of metabolism - targeted testing not possible v4.49 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex III deficiency, nuclear type 3 615158; Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex III deficiency
Likely inborn error of metabolism - targeted testing not possible v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.48 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.47 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.47 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Likely inborn error of metabolism - targeted testing not possible v4.46 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Likely inborn error of metabolism - targeted testing not possible v4.45 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism - targeted testing not possible v4.45 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC12A3 Sarah Leigh commented on gene: SLC12A3: Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Likely inborn error of metabolism - targeted testing not possible v4.44 LETM1 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. PMID: 36055214 reports 12 LETM1 variants in 11 unrelated cases of Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (OMIM: 620089), together with supportive functional studies.; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.44 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Likely inborn error of metabolism - targeted testing not possible v4.44 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Likely inborn error of metabolism - targeted testing not possible v4.43 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v4.42 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v4.42 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.42 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Likely inborn error of metabolism - targeted testing not possible v4.41 ETFB Sarah Leigh Publications for gene: ETFB were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.40 ETFB Sarah Leigh Added comment: Comment on phenotypes: Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v4.40 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Likely inborn error of metabolism - targeted testing not possible v4.39 ETFA Sarah Leigh Added comment: Comment on phenotypes: Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIA
Likely inborn error of metabolism - targeted testing not possible v4.39 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Likely inborn error of metabolism - targeted testing not possible v4.38 ETFA Sarah Leigh Added comment: Comment on phenotypes: Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v4.38 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Likely inborn error of metabolism - targeted testing not possible v4.37 ETFA Sarah Leigh edited their review of gene: ETFA: Added comment: Associated with phenotype in OMIM and as a definitive Developmental Disorder Gene / G2P. At least five ETFA variants have been reported, two in homozygous and compound heterozygous cases and three as compound heterozygotes (at least eight unrelated cases).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v4.37 ETFA Sarah Leigh Publications for gene: ETFA were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.36 COASY Sarah Leigh Publications for gene: COASY were set to 30089828
Likely inborn error of metabolism - targeted testing not possible v4.35 LETM1 Sarah Leigh Classified gene: LETM1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.35 LETM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.35 LETM1 Sarah Leigh Gene: letm1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.34 LETM1 Sarah Leigh reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.34 LETM1 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: LETM1.
Likely inborn error of metabolism - targeted testing not possible v4.34 LETM1 Sarah Leigh Mode of inheritance for gene: LETM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.33 LETM1 Sarah Leigh Phenotypes for gene: LETM1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Likely inborn error of metabolism - targeted testing not possible v4.32 LETM1 Sarah Leigh Publications for gene: LETM1 were set to
Likely inborn error of metabolism - targeted testing not possible v4.31 OGDH Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.31 OGDH Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v4.31 OGDH Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.30 OGDH Sarah Leigh Tag Q2_23_promote_green tag was added to gene: OGDH.
Likely inborn error of metabolism - targeted testing not possible v4.30 OGDH Sarah Leigh reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v4.30 OGDH Sarah Leigh Mode of inheritance for gene: OGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.29 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Likely inborn error of metabolism - targeted testing not possible v4.29 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Likely inborn error of metabolism - targeted testing not possible v4.28 OGDH Sarah Leigh Publications for gene: OGDH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PNPLA2.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Likely inborn error of metabolism - targeted testing not possible v4.25 PNPLA2 Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 21544567, 25287355, 25956450, 32269696; Phenotypes: Neutral lipid storage disease with myopathy, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.25 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency; Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Likely inborn error of metabolism - targeted testing not possible v4.24 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Likely inborn error of metabolism - targeted testing not possible v4.23 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150
Likely inborn error of metabolism - targeted testing not possible v4.22 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from 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 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 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 v4.21 UQCC2 Arina Puzriakova Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Likely inborn error of metabolism - targeted testing not possible v4.20 SUCLA2 Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from 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)) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism - targeted testing not possible v4.19 NDUFV2 Arina Puzriakova Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010; 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 Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v4.18 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Likely inborn error of metabolism - targeted testing not possible v4.17 NDUFB3 Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Likely inborn error of metabolism - targeted testing not possible v4.16 NDUFA6 Arina Puzriakova Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, 618253; No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Likely inborn error of metabolism - targeted testing not possible v4.15 NADK2 Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency 616034 to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Likely inborn error of metabolism - targeted testing not possible v4.14 MRPS14 Arina Puzriakova Phenotypes for gene: MRPS14 were changed from ?Combined oxidative phosphorylation deficiency 38, 618378 to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Likely inborn error of metabolism - targeted testing not possible v4.13 MPC1 Arina Puzriakova Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Likely inborn error of metabolism - targeted testing not possible v4.12 GFM2 Arina Puzriakova Phenotypes for gene: GFM2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Likely inborn error of metabolism - targeted testing not possible v4.11 GATB Arina Puzriakova Mode of inheritance for gene: GATB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.10 GATB Arina Puzriakova Phenotypes for gene: GATB were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Likely inborn error of metabolism - targeted testing not possible v4.9 ECHS1 Arina Puzriakova Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Likely inborn error of metabolism - targeted testing not possible v4.8 COA6 Arina Puzriakova Phenotypes for gene: COA6 were changed from ?{Fatal infantile cardiomyopathy, association with}, 604377 to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Likely inborn error of metabolism - targeted testing not possible v4.7 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Likely inborn error of metabolism - targeted testing not possible v4.6 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to 34954817; 35621276
Likely inborn error of metabolism - targeted testing not possible v4.6 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Likely inborn error of metabolism - targeted testing not possible v4.5 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.4 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.4 ATP5O Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update.
Likely inborn error of metabolism - targeted testing not possible v4.4 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.3 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Likely inborn error of metabolism - targeted testing not possible v4.3 ATP5O Arina Puzriakova reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817, 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.3 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Likely inborn error of metabolism - targeted testing not possible v4.3 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.2 SPG7 Sarah Leigh edited their review of gene: SPG7: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.2 SPG7 Sarah Leigh Added comment: Comment on 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
Likely inborn error of metabolism - targeted testing not possible v4.2 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from 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 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Likely inborn error of metabolism - targeted testing not possible v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Likely inborn error of metabolism - targeted testing not possible v4.0 Arina Puzriakova promoted panel to version 4.0
Likely inborn error of metabolism - targeted testing not possible v3.21 Catherine Snow Panel name changed from Inborn errors of metabolism to Likely inborn error of metabolism - targeted testing not possible
List of related panels changed from Likely inborn error of metabolism - targeted testing not possible; Likely inborn error of metabolism; R98 to Likely inborn error of metabolism - targeted testing not possible; Likely inborn error of metabolism; Inborn errors of metabolism; R98
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.20 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.19 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: GCSH.
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.18 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review.
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.17 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.16 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from Glycine encephalopathy to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515
Likely inborn error of metabolism - targeted testing not possible v3.15 GCSH Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515
Likely inborn error of metabolism - targeted testing not possible v3.14 GCSH Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515
Likely inborn error of metabolism - targeted testing not possible v3.14 GCSH Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403
Likely inborn error of metabolism - targeted testing not possible v3.13 GCSH Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: ?Glycine encephalopathy, OMIM:605899, Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Classified gene: SLC31A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Likely inborn error of metabolism - targeted testing not possible v3.12 SLC31A1 Achchuthan Shanmugasundram Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.11 SLC31A1 Achchuthan Shanmugasundram gene: SLC31A1 was added
gene: SLC31A1 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to 35913762; 36562171
Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: SLC31A1 was set to AMBER
Added comment: PMID:35913762 reported an identical twin male infants identified with homozygous novel missense variant p.Arg95His in CTR1. The twins had hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. In addition, the CSF copper levels were lower and functional studies including structural modelling of the variant showed impaired copper transport. Treatment with copper Histidinate in the patients' cultured cells and in the patients normalized CCO activity and enhanced mitochondrial respiration in vitro, and was associated with modest clinical improvements.

PMID:36562171 reported a newborn infant of consanguineous parents with a homozygous pathogenic variant p.Leu79Pro in CTR1. This infant was born with pulmonary hypoplasia. At two weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. Laboratory investigations revealed very low serum concentrations of copper and ceruloplasmin. The infant died at one month of age.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167).
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167).
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167).
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CRLS1.
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167).
Likely inborn error of metabolism - targeted testing not possible v3.9 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v3.8 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Combined oxidative phosphorylation deficiency 57, OMIM:620167
Review for gene: CRLS1 was set to GREEN
Added comment: Three individuals from two unrelated families were identified with the same homozygous variant in CRLS1 (p.Ile109Asn). They presented with a mitochondrial disorder characterized by an evolving pattern of cardiomyopathy, encephalopathy, bilateral auditory neuropathy spectrum disorder, bull’s eye maculopathy, diabetes insipidus, autonomic instability and low complex IV activity in skeletal muscle.

A fourth individual was identified with a compound heterozygous CRLS1 variant (p.Ala172Asp/ p.Leu217Phe) that presented with developmental regression beginning in late infancy, with acquired microcephaly, sensorineural hearing loss and impaired vision.

Lipidomics in fibroblasts from 2 patients demonstrated that cardiolipin was reduced, cardiolipin acyl side chains had an abnormal distribution, and substrates of CRLS1 were abnormally elevated, including an elevation of phosphatidylglycerol.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Likely inborn error of metabolism - targeted testing not possible v3.7 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642
Likely inborn error of metabolism - targeted testing not possible v3.6 XPNPEP3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: XPNPEP3.
Likely inborn error of metabolism - targeted testing not possible v3.6 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SSBP1.
Likely inborn error of metabolism - targeted testing not possible v3.6 SPTLC1 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v3.6 PEX6 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: PEX6.
Likely inborn error of metabolism - targeted testing not possible v3.6 GNE Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: GNE.
Likely inborn error of metabolism - targeted testing not possible v3.6 CPT2 Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: CPT2.
Likely inborn error of metabolism - targeted testing not possible v3.6 C19orf12 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: C19orf12.
Likely inborn error of metabolism - targeted testing not possible v3.6 APOB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: APOB.
Likely inborn error of metabolism - targeted testing not possible v3.6 APOA5 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: APOA5.
Likely inborn error of metabolism - targeted testing not possible v3.6 ALDH18A1 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: ALDH18A1.
Likely inborn error of metabolism - targeted testing not possible v3.6 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Likely inborn error of metabolism - targeted testing not possible v3.6 PDK3 Achchuthan Shanmugasundram Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q2_22_rating was removed from gene: PDK3.
Tag Q2_22_expert_review was removed from gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v3.6 GORAB Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: GORAB.
Tag Q2_22_rating was removed from gene: GORAB.
Tag Q2_22_expert_review was removed from gene: GORAB.
Likely inborn error of metabolism - targeted testing not possible v3.6 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Likely inborn error of metabolism - targeted testing not possible v3.6 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Likely inborn error of metabolism - targeted testing not possible v3.6 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Likely inborn error of metabolism - targeted testing not possible v3.6 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Likely inborn error of metabolism - targeted testing not possible v3.6 STT3A Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: STT3A.
Likely inborn error of metabolism - targeted testing not possible v3.6 SLC37A4 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SLC37A4.
Likely inborn error of metabolism - targeted testing not possible v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Likely inborn error of metabolism - targeted testing not possible v3.6 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Likely inborn error of metabolism - targeted testing not possible v3.6 NFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1.
Tag treatable tag was added to gene: NFS1.
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Likely inborn error of metabolism - targeted testing not possible v3.6 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v3.6 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 SSBP1 Achchuthan Shanmugasundram commented on gene: SSBP1
Likely inborn error of metabolism - targeted testing not possible v3.6 SPTLC1 Achchuthan Shanmugasundram commented on gene: SPTLC1
Likely inborn error of metabolism - targeted testing not possible v3.6 PEX6 Achchuthan Shanmugasundram commented on gene: PEX6
Likely inborn error of metabolism - targeted testing not possible v3.6 GNE Achchuthan Shanmugasundram commented on gene: GNE
Likely inborn error of metabolism - targeted testing not possible v3.6 CPT2 Achchuthan Shanmugasundram commented on gene: CPT2
Likely inborn error of metabolism - targeted testing not possible v3.6 C19orf12 Achchuthan Shanmugasundram commented on gene: C19orf12
Likely inborn error of metabolism - targeted testing not possible v3.6 APOB Achchuthan Shanmugasundram commented on gene: APOB
Likely inborn error of metabolism - targeted testing not possible v3.6 APOA5 Achchuthan Shanmugasundram commented on gene: APOA5
Likely inborn error of metabolism - targeted testing not possible v3.6 ALDH18A1 Achchuthan Shanmugasundram commented on gene: ALDH18A1
Likely inborn error of metabolism - targeted testing not possible v3.6 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Likely inborn error of metabolism - targeted testing not possible v3.6 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 STT3A Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 SLC37A4 Achchuthan Shanmugasundram commented on gene: SLC37A4
Likely inborn error of metabolism - targeted testing not possible v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Likely inborn error of metabolism - targeted testing not possible v3.6 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.5 XPNPEP3 Achchuthan Shanmugasundram Source NHS GMS was added to XPNPEP3.
Source Expert Review Green was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 UQCRFS1 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRFS1.
Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 UQCRC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRC2.
Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 TIMMDC1 Achchuthan Shanmugasundram Source NHS GMS was added to TIMMDC1.
Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 TFAM Achchuthan Shanmugasundram Source NHS GMS was added to TFAM.
Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 STT3A Achchuthan Shanmugasundram Source NHS GMS was added to STT3A.
Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 SSBP1 Achchuthan Shanmugasundram Source NHS GMS was added to SSBP1.
Mode of inheritance for gene SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 SPTLC1 Achchuthan Shanmugasundram Mode of inheritance for gene SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v3.5 SLC37A4 Achchuthan Shanmugasundram Mode of inheritance for gene SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 PEX6 Achchuthan Shanmugasundram Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 PDK3 Achchuthan Shanmugasundram Source Expert Review Green was added to PDK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 NSUN3 Achchuthan Shanmugasundram Source NHS GMS was added to NSUN3.
Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 NFS1 Achchuthan Shanmugasundram Source NHS GMS was added to NFS1.
Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 NDUFB10 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB10.
Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 NDUFA8 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA8.
Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 NDUFA13 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13.
Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 LYRM4 Achchuthan Shanmugasundram Source NHS GMS was added to LYRM4.
Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 GORAB Achchuthan Shanmugasundram Source NHS GMS was added to GORAB.
Source Expert Review Green was added to GORAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 GNE Achchuthan Shanmugasundram Mode of inheritance for gene GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 CPT2 Achchuthan Shanmugasundram Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 C19orf12 Achchuthan Shanmugasundram Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 ATP5G3 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5G3.
Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v3.5 APOB Achchuthan Shanmugasundram Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 APOA5 Achchuthan Shanmugasundram Mode of inheritance for gene APOA5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 ALDH18A1 Achchuthan Shanmugasundram Mode of inheritance for gene ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 ACO2 Achchuthan Shanmugasundram Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.4 COX15 Arina Puzriakova 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, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Likely inborn error of metabolism - targeted testing not possible v3.3 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from 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) to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
Likely inborn error of metabolism - targeted testing not possible v3.2 SLC26A6 Arina Puzriakova gene: SLC26A6 was added
gene: SLC26A6 was added to Inborn errors of metabolism. Sources: Literature
watchlist tags were added to gene: SLC26A6.
Mode of inheritance for gene: SLC26A6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC26A6 were set to 35115415
Phenotypes for gene: SLC26A6 were set to Enteric hyperoxaluria and nephrolithiasis
Added comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969)

SLC26A6 is currently not associated with any human phenotype in OMIM or G2P.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Likely inborn error of metabolism - targeted testing not possible v3.0 Eleanor Williams promoted panel to version 3.0
Likely inborn error of metabolism - targeted testing not possible v2.329 ARSK Arina Puzriakova Classified gene: ARSK as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.329 ARSK Arina Puzriakova Added comment: Comment on list classification: Rating Amber awaiting further cases.
Likely inborn error of metabolism - targeted testing not possible v2.329 ARSK Arina Puzriakova Gene: arsk has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.328 ARSK Arina Puzriakova gene: ARSK was added
gene: ARSK was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSK were set to 34916232
Phenotypes for gene: ARSK were set to Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex
Review for gene: ARSK was set to AMBER
Added comment: Verheyen et al. 2022 (PMID: 34916232) reported four affected individuals of two unrelated consanguineous families with homozygous variants c.250C>T, p.(Arg84Cys) and c.560T>A, p.(Leu187Ter) in ARSK, respectively. Patients were affected with skeletal dysplasia, resembling spondyloepiphysial dysplasia. Reverse phenotyping in two individuals from one family revealed additional cardiac and ophthalmological abnormalities.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.327 HFE Arina Puzriakova Phenotypes for gene: HFE were changed from Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) to Hemochromatosis, OMIM:235200
Likely inborn error of metabolism - targeted testing not possible v2.326 GPHN Arina Puzriakova Publications for gene: GPHN were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.325 GPHN Arina Puzriakova Phenotypes for gene: GPHN were changed from Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy to Molybdenum cofactor deficiency C, OMIM:615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism - targeted testing not possible v2.324 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Likely inborn error of metabolism - targeted testing not possible v2.323 ACOX1 Arina Puzriakova Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; Mitchell syndrome, OMIM:618960 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Likely inborn error of metabolism - targeted testing not possible v2.322 ACOX1 Arina Puzriakova Tag Q4_22_MOI was removed from gene: ACOX1.
Likely inborn error of metabolism - targeted testing not possible v2.322 ACOX1 Arina Puzriakova Tag Q4_22_MOI tag was added to gene: ACOX1.
Likely inborn error of metabolism - targeted testing not possible v2.322 ACOX1 Arina Puzriakova Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; Mitchell syndrome, OMIM:618960
Likely inborn error of metabolism - targeted testing not possible v2.321 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Likely inborn error of metabolism - targeted testing not possible v2.320 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from Intellectual disability; Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
Likely inborn error of metabolism - targeted testing not possible v2.319 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from 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) to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Likely inborn error of metabolism - targeted testing not possible v2.318 UQCRC2 Arina Puzriakova Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.317 UQCRC2 Arina Puzriakova Publications for gene: UQCRC2 were set to 28275242; 23281071
Likely inborn error of metabolism - targeted testing not possible v2.316 UQCRC2 Arina Puzriakova Phenotypes for gene: UQCRC2 were changed from Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Likely inborn error of metabolism - targeted testing not possible v2.315 UQCRC1 Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.315 UQCRC1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804)
Likely inborn error of metabolism - targeted testing not possible v2.315 UQCRC1 Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.314 UQCRC1 Arina Puzriakova Publications for gene: UQCRC1 were set to
Likely inborn error of metabolism - targeted testing not possible v2.313 UQCRC1 Arina Puzriakova Mode of inheritance for gene: UQCRC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.312 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279
Likely inborn error of metabolism - targeted testing not possible v2.311 PET117 Arina Puzriakova Phenotypes for gene: PET117 were changed from lesions in the medulla oblongata to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Likely inborn error of metabolism - targeted testing not possible v2.310 NFS1 Arina Puzriakova Classified gene: NFS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.310 NFS1 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v2.310 NFS1 Arina Puzriakova Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.309 NFS1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NFS1.
Likely inborn error of metabolism - targeted testing not possible v2.309 NFS1 Arina Puzriakova reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24498631, 33457206; Phenotypes: Combined oxidative phosphorylation deficiency 52, OMIM: 619386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.309 NFS1 Arina Puzriakova Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.308 NFS1 Arina Puzriakova Publications for gene: NFS1 were set to
Likely inborn error of metabolism - targeted testing not possible v2.307 NFS1 Arina Puzriakova Phenotypes for gene: NFS1 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Likely inborn error of metabolism - targeted testing not possible v2.306 TWNK Arina Puzriakova 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, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138
Likely inborn error of metabolism - targeted testing not possible v2.305 SDHA Arina Puzriakova Publications for gene: SDHA were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.304 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000; Paragangliomas 5, 614165; 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 to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
Likely inborn error of metabolism - targeted testing not possible v2.303 QRSL1 Arina Puzriakova Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835 to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Likely inborn error of metabolism - targeted testing not possible v2.302 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to 29440775; 26741492
Likely inborn error of metabolism - targeted testing not possible v2.301 POLG2 Arina Puzriakova Publications for gene: POLG2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.300 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from 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 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Likely inborn error of metabolism - targeted testing not possible v2.299 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Likely inborn error of metabolism - targeted testing not possible v2.298 UQCRFS1 Arina Puzriakova Classified gene: UQCRFS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.298 UQCRFS1 Arina Puzriakova Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.297 UQCRFS1 Arina Puzriakova Phenotypes for gene: UQCRFS1 were changed from No OMIM phenotype to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Likely inborn error of metabolism - targeted testing not possible v2.296 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Likely inborn error of metabolism - targeted testing not possible v2.295 UQCRFS1 Arina Puzriakova Mode of inheritance for gene: UQCRFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.294 TIMMDC1 Arina Puzriakova Publications for gene: TIMMDC1 were set to 28604674
Likely inborn error of metabolism - targeted testing not possible v2.293 TIMMDC1 Arina Puzriakova Phenotypes for gene: TIMMDC1 were changed from Mitochondrial complex I deficiency, nuclear type 31, 618251 to Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251
Likely inborn error of metabolism - targeted testing not possible v2.292 TFAM Arina Puzriakova Publications for gene: TFAM were set to 27448789
Likely inborn error of metabolism - targeted testing not possible v2.291 TFAM Arina Puzriakova Phenotypes for gene: TFAM were changed from ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Likely inborn error of metabolism - targeted testing not possible v2.290 TARS2 Arina Puzriakova Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398 to Combined oxidative phosphorylation deficiency 21, OMIM:615918
Likely inborn error of metabolism - targeted testing not possible v2.289 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from 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 to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Likely inborn error of metabolism - targeted testing not possible v2.288 NSUN3 Arina Puzriakova Phenotypes for gene: NSUN3 were changed from Combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, OMIM:619012
Likely inborn error of metabolism - targeted testing not possible v2.287 NSUN3 Arina Puzriakova Publications for gene: NSUN3 were set to 27356879
Likely inborn error of metabolism - targeted testing not possible v2.286 NDUFB10 Arina Puzriakova Classified gene: NDUFB10 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.286 NDUFB10 Arina Puzriakova Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.285 NDUFB10 Arina Puzriakova Mode of inheritance for gene: NDUFB10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.284 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to
Likely inborn error of metabolism - targeted testing not possible v2.283 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Likely inborn error of metabolism - targeted testing not possible v2.282 NDUFA8 Arina Puzriakova Classified gene: NDUFA8 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.282 NDUFA8 Arina Puzriakova Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.281 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Likely inborn error of metabolism - targeted testing not possible v2.280 NDUFA8 Arina Puzriakova Publications for gene: NDUFA8 were set to
Likely inborn error of metabolism - targeted testing not possible v2.279 NDUFA8 Arina Puzriakova Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.278 NDUFA13 Arina Puzriakova Classified gene: NDUFA13 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.278 NDUFA13 Arina Puzriakova Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.277 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Likely inborn error of metabolism - targeted testing not possible v2.276 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006
Likely inborn error of metabolism - targeted testing not possible v2.275 NDUFA12 Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Likely inborn error of metabolism - targeted testing not possible v2.274 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism - targeted testing not possible v2.273 LYRM4 Arina Puzriakova Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Likely inborn error of metabolism - targeted testing not possible v2.272 LYRM4 Arina Puzriakova Publications for gene: LYRM4 were set to 23814038
Likely inborn error of metabolism - targeted testing not possible v2.271 ATP5G3 Arina Puzriakova Classified gene: ATP5G3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.271 ATP5G3 Arina Puzriakova Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.270 ATP5G3 Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.269 ATP5G3 Arina Puzriakova Publications for gene: ATP5G3 were set to
Likely inborn error of metabolism - targeted testing not possible v2.268 ATP5G3 Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Likely inborn error of metabolism - targeted testing not possible v2.267 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set 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 v2.266 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Likely inborn error of metabolism - targeted testing not possible v2.265 UQCRC2 Arina Puzriakova reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28275242, 23281071, 33865955; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683074, 10976639, 33471299; Phenotypes: Cardiomyopathy, dilated, 1GG, OMIM: 613642, Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 UQCRFS1 Arina Puzriakova reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 TIMMDC1 Arina Puzriakova reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28604674, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 TFAM Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 32399598, 27448789, 31785789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 NSUN3 Arina Puzriakova reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM: 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 NDUFB10 Arina Puzriakova reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730, 32025618, 33169436; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 NDUFA8 Arina Puzriakova reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153867, 32385911; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 NDUFA13 Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 LYRM4 Arina Puzriakova reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31497476, 23814038; Phenotypes: Combined oxidative phosphorylation deficiency 19, OMIM: 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.265 ATP5G3 Arina Puzriakova edited their review of gene: ATP5G3: Added comment: This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R357 and R63). As there is sufficient supporting evidence, the rating should also be updated to Green on this panel at the next GMS review.; Changed rating: GREEN; Changed publications to: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.265 ATP5A1 Arina Puzriakova reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34483339, 23596069, 23599390, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228, Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.264 UQCRC2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRC2.
Likely inborn error of metabolism - targeted testing not possible v2.264 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Likely inborn error of metabolism - targeted testing not possible v2.264 UQCRFS1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRFS1.
Likely inborn error of metabolism - targeted testing not possible v2.264 TIMMDC1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TIMMDC1.
Likely inborn error of metabolism - targeted testing not possible v2.264 TFAM Arina Puzriakova Tag Q3_22_rating tag was added to gene: TFAM.
Likely inborn error of metabolism - targeted testing not possible v2.264 NSUN3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NSUN3.
Likely inborn error of metabolism - targeted testing not possible v2.264 NDUFB10 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10.
Likely inborn error of metabolism - targeted testing not possible v2.264 NDUFA8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA8.
Likely inborn error of metabolism - targeted testing not possible v2.264 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Likely inborn error of metabolism - targeted testing not possible v2.264 LYRM4 Arina Puzriakova Tag Q3_22_rating tag was added to gene: LYRM4.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5G3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5G3 Arina Puzriakova commented on gene: ATP5G3
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: ATP5A1.
Tag Q3_22_rating tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.263 EXT1 Arina Puzriakova commented on gene: EXT1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Likely inborn error of metabolism - targeted testing not possible v2.263 DHTKD1 Arina Puzriakova commented on gene: DHTKD1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Likely inborn error of metabolism - targeted testing not possible v2.262 STT3A Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' - congenital disorder of glycosylation due to STT3A has been identified in at least 3 families with biallelic variants (PMIDs: 23842455; 30701557; 28424003) and 9 families with monoallelic variants (PMID: 34653363)
Likely inborn error of metabolism - targeted testing not possible v2.262 STT3A Arina Puzriakova Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.261 STT3A Arina Puzriakova Tag Q3_22_rating tag was added to gene: STT3A.
Likely inborn error of metabolism - targeted testing not possible v2.261 STT3A Arina Puzriakova Publications for gene: STT3A were set to 23842455
Likely inborn error of metabolism - targeted testing not possible v2.260 STT3A Arina Puzriakova Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Likely inborn error of metabolism - targeted testing not possible v2.259 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Likely inborn error of metabolism - targeted testing not possible v2.259 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Likely inborn error of metabolism - targeted testing not possible v2.259 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Likely inborn error of metabolism - targeted testing not possible v2.259 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Likely inborn error of metabolism - targeted testing not possible v2.259 TTC37 Sarah Leigh commented on gene: TTC37: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.
Likely inborn error of metabolism - targeted testing not possible v2.259 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Likely inborn error of metabolism - targeted testing not possible v2.259 SKIV2L Sarah Leigh commented on gene: SKIV2L: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.
Likely inborn error of metabolism - targeted testing not possible v2.259 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Likely inborn error of metabolism - targeted testing not possible v2.259 GBA Sarah Leigh commented on gene: GBA
Likely inborn error of metabolism - targeted testing not possible v2.259 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from 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 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Congenital disorder of glycosylation, type IIw, OMIM:619525
Likely inborn error of metabolism - targeted testing not possible v2.258 SLC37A4 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' to the next GMS panel update.

Biallelic LOF variants in this gene cause glycogen storage disorder while monoallelic variants in SLC37A4 are linked to a congenital disorder of glycosylation in OMIM (MIM# 619525) and G2P (definitive disease confidence). Therefore both inheritance patterns are relevant to this panel.
Likely inborn error of metabolism - targeted testing not possible v2.258 SLC37A4 Arina Puzriakova Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.257 SLC37A4 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SLC37A4.
Likely inborn error of metabolism - targeted testing not possible v2.257 GLS_GCA Eleanor Williams Tag for-review was removed from STR: GLS_GCA.
Likely inborn error of metabolism - targeted testing not possible v2.257 GORAB Sarah Leigh Tag Q2_22_rating tag was added to gene: GORAB.
Tag Q2_22_expert_review tag was added to gene: GORAB.
Likely inborn error of metabolism - targeted testing not possible v2.257 PDK3 Sarah Leigh Tag Q2_22_rating tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.257 PDK3 Sarah Leigh Tag Q2_22_expert_review tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.257 ACO2 Sarah Leigh Tag Q2_22_NHS_review was removed from gene: ACO2.
Likely inborn error of metabolism - targeted testing not possible v2.257 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Likely inborn error of metabolism - targeted testing not possible v2.257 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Tag Q2_22_NHS_review tag was added to gene: ACO2.
Likely inborn error of metabolism - targeted testing not possible v2.257 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.257 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Likely inborn error of metabolism - targeted testing not possible v2.256 IDH1 Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416
Likely inborn error of metabolism - targeted testing not possible v2.255 PRODH Sarah Leigh Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) to Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400
Likely inborn error of metabolism - targeted testing not possible v2.254 PRODH Sarah Leigh Classified gene: PRODH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.254 PRODH Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021
(https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z).
Likely inborn error of metabolism - targeted testing not possible v2.254 PRODH Sarah Leigh Gene: prodh has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.253 TARS2 Arina Puzriakova Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.252 TAZ Arina Puzriakova commented on gene: TAZ
Likely inborn error of metabolism - targeted testing not possible v2.252 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TS1 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS1.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TS2 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS2.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TV Eleanor Williams Tag gene-checked tag was added to gene: MT-TV.
Likely inborn error of metabolism - targeted testing not possible v2.252 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Likely inborn error of metabolism - targeted testing not possible v2.252 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Likely inborn error of metabolism - targeted testing not possible v2.252 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873
Likely inborn error of metabolism - targeted testing not possible v2.251 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 35 617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM:617873
Likely inborn error of metabolism - targeted testing not possible v2.250 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Likely inborn error of metabolism - targeted testing not possible v2.250 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Likely inborn error of metabolism - targeted testing not possible v2.250 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Likely inborn error of metabolism - targeted testing not possible v2.250 TRAP1 Catherine Snow Tag gene-checked tag was added to gene: TRAP1.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND5 Catherine Snow Tag gene-checked tag was added to gene: MT-ND5.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND4L Catherine Snow Tag gene-checked tag was added to gene: MT-ND4L.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND4 Catherine Snow Tag gene-checked tag was added to gene: MT-ND4.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND3 Catherine Snow Tag gene-checked tag was added to gene: MT-ND3.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND2 Catherine Snow Tag gene-checked tag was added to gene: MT-ND2.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND1 Catherine Snow Tag gene-checked tag was added to gene: MT-ND1.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Likely inborn error of metabolism - targeted testing not possible v2.250 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Likely inborn error of metabolism - targeted testing not possible v2.250 FH Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) to Fumarase deficiency, OMIM:606812; Disorders of the citric acid cycle
Likely inborn error of metabolism - targeted testing not possible v2.249 SLC16A1 Sarah Leigh changed review comment from: Comment on phenotypes: Hyperinsulinemic hypoglycemia, familial, 7;mainly ketosis with borderline reduction in glucose; to: Comment on phenotypes: Previous phenotype entry: Hyperinsulinemic hypoglycemia, familial, 7;mainly ketosis with borderline reduction in glucose
Likely inborn error of metabolism - targeted testing not possible v2.249 SLC16A1 Sarah Leigh edited their review of gene: SLC16A1: Changed phenotypes to: Erythrocyte lactate transporter defect, OMIM:245340, Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021, Monocarboxylate transporter 1 deficiency, OMIM:616095; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.249 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: Hyperinsulinemic hypoglycemia, familial, 7;mainly ketosis with borderline reduction in glucose
Likely inborn error of metabolism - targeted testing not possible v2.249 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
Likely inborn error of metabolism - targeted testing not possible v2.248 SETX Sarah Leigh Phenotypes for gene: SETX were changed from Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002; Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Likely inborn error of metabolism - targeted testing not possible v2.247 SETX Sarah Leigh edited their review of gene: SETX: Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002, Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Likely inborn error of metabolism - targeted testing not possible v2.247 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Likely inborn error of metabolism - targeted testing not possible v2.246 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Likely inborn error of metabolism - targeted testing not possible v2.245 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Likely inborn error of metabolism - targeted testing not possible v2.244 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from 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 to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
Likely inborn error of metabolism - targeted testing not possible v2.243 C19orf12 Sarah Leigh Tag Q2_22_MOI tag was added to gene: C19orf12.
Likely inborn error of metabolism - targeted testing not possible v2.243 C19orf12 Sarah Leigh edited their review of gene: C19orf12: Added comment: Monfrini et al (PMID: 29295770) and Gregory et al (PMID: 31087512) have reported heterozygous pathogenic C19ORF12 variants in patients with neurodegeneration with brain iron accumulation 4 (OMIM: 614298). Therefore, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; Changed publications to: 29295770, 31087512; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.243 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Likely inborn error of metabolism - targeted testing not possible v2.242 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.241 SLC5A6 Arina Puzriakova Phenotypes for gene: SLC5A6 were changed from SLC5A6-related Neurodevelopmental Disorder to Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
Likely inborn error of metabolism - targeted testing not possible v2.240 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, type 2K to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Likely inborn error of metabolism - targeted testing not possible v2.239 PEX6 Sarah Leigh Mode of pathogenicity for gene PEX6 was changed from to Other
Penetrance for gene PEX6 was set from to None
Likely inborn error of metabolism - targeted testing not possible v2.238 PEX6 Sarah Leigh commented on gene: PEX6: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).
Likely inborn error of metabolism - targeted testing not possible v2.238 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Likely inborn error of metabolism - targeted testing not possible v2.238 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.237 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Likely inborn error of metabolism - targeted testing not possible v2.237 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from 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)) to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Tag Q1_22_MOI tag was added to gene: SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Added comment: Comment on mode of inheritance: There is no data to support that homozygous variants of SPTLC1 are associated with Neuropathy, hereditary sensory and autonomic, type IA, OMIM:162400. Therefore the MOI for this gene should be MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.236 SPTLC1 Sarah Leigh Mode of inheritance for gene: SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.235 SPTLC1 Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.234 SPTLC1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.234 QARS Sarah Leigh Mode of inheritance for gene: QARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.233 QARS Sarah Leigh Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.233 QARS Sarah Leigh Publications for gene: QARS were set to
Likely inborn error of metabolism - targeted testing not possible v2.232 GATC Sarah Leigh Added comment: Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism - targeted testing not possible v2.232 GATC Sarah Leigh Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839
Likely inborn error of metabolism - targeted testing not possible v2.231 GATC Sarah Leigh Mode of inheritance for gene: GATC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.230 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Likely inborn error of metabolism - targeted testing not possible v2.230 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Likely inborn error of metabolism - targeted testing not possible v2.229 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Likely inborn error of metabolism - targeted testing not possible v2.229 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Ivone Leong Tag Q4_21_rating was removed from gene: TARS2.
Likely inborn error of metabolism - targeted testing not possible v2.229 POMK Ivone Leong Tag Q2_21_rating was removed from gene: POMK.
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFC2 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFC2.
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFA12 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFA12.
Likely inborn error of metabolism - targeted testing not possible v2.229 GALNT2 Ivone Leong Tag Q2_21_rating was removed from gene: GALNT2.
Likely inborn error of metabolism - targeted testing not possible v2.229 EOGT Ivone Leong Tag Q2_21_rating was removed from gene: EOGT.
Likely inborn error of metabolism - targeted testing not possible v2.229 EHBP1L1 Ivone Leong Tag Q4_21_rating was removed from gene: EHBP1L1.
Likely inborn error of metabolism - targeted testing not possible v2.229 CSGALNACT1 Ivone Leong Tag Q2_21_rating was removed from gene: CSGALNACT1.
Likely inborn error of metabolism - targeted testing not possible v2.229 B4GALNT1 Ivone Leong Tag Q2_21_rating was removed from gene: B4GALNT1.
Likely inborn error of metabolism - targeted testing not possible v2.229 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Likely inborn error of metabolism - targeted testing not possible v2.229 CLPB Ivone Leong Tag Q4_21_MOI was removed from gene: CLPB.
Likely inborn error of metabolism - targeted testing not possible v2.229 NAXD Ivone Leong Tag Q2_21_rating was removed from gene: NAXD.
Likely inborn error of metabolism - targeted testing not possible v2.229 NAXD Sarah Leigh commented on gene: NAXD
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 POMK Sarah Leigh commented on gene: POMK: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFA12 Sarah Leigh commented on gene: NDUFA12: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 FAR1 Sarah Leigh commented on gene: FAR1
Likely inborn error of metabolism - targeted testing not possible v2.229 EOGT Sarah Leigh commented on gene: EOGT: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 EHBP1L1 Sarah Leigh commented on gene: EHBP1L1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 CSGALNACT1 Sarah Leigh commented on gene: CSGALNACT1
Likely inborn error of metabolism - targeted testing not possible v2.229 CLPB Sarah Leigh commented on gene: CLPB
Likely inborn error of metabolism - targeted testing not possible v2.229 B4GALNT1 Sarah Leigh commented on gene: B4GALNT1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Likely inborn error of metabolism - targeted testing not possible v2.229 NAXD Ivone Leong Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 TARS2 Ivone Leong Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 POMK Ivone Leong Source Expert Review Green was added to POMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFC2 Ivone Leong Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 NDUFA12 Ivone Leong Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 GALNT2 Ivone Leong Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 FAR1 Ivone Leong Source Expert Review Red was added to FAR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 EOGT Ivone Leong Source Expert Review Green was added to EOGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 EHBP1L1 Ivone Leong Source Expert Review Green was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 CSGALNACT1 Ivone Leong Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.229 CLPB Ivone Leong Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.229 B4GALNT1 Ivone Leong Source Expert Review Green was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.226 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Likely inborn error of metabolism - targeted testing not possible v2.226 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Likely inborn error of metabolism - targeted testing not possible v2.225 EXT1 Arina Puzriakova commented on gene: EXT1
Likely inborn error of metabolism - targeted testing not possible v2.225 DHTKD1 Arina Puzriakova commented on gene: DHTKD1
Likely inborn error of metabolism - targeted testing not possible v2.224 EXT1 Arina Puzriakova Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v2.224 DHTKD1 Arina Puzriakova Mode of inheritance for gene DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.223 AHCY Sarah Leigh Tag for-review was removed from gene: AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.223 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Likely inborn error of metabolism - targeted testing not possible v2.223 SLC5A6 Sarah Leigh Tag for-review was removed from gene: SLC5A6.
Likely inborn error of metabolism - targeted testing not possible v2.223 GALM Sarah Leigh Tag for-review was removed from gene: GALM.
Likely inborn error of metabolism - targeted testing not possible v2.223 HS2ST1 Sarah Leigh Tag for-review was removed from gene: HS2ST1.
Likely inborn error of metabolism - targeted testing not possible v2.223 SHMT2 Sarah Leigh Tag for-review was removed from gene: SHMT2.
Likely inborn error of metabolism - targeted testing not possible v2.223 GLS Sarah Leigh Tag for-review was removed from gene: GLS.
Likely inborn error of metabolism - targeted testing not possible v2.223 GMPPA Sarah Leigh Tag for-review was removed from gene: GMPPA.
Likely inborn error of metabolism - targeted testing not possible v2.223 PIGS Sarah Leigh Tag for-review was removed from gene: PIGS.
Likely inborn error of metabolism - targeted testing not possible v2.223 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.223 GMPPA Sarah Leigh commented on gene: GMPPA: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.223 GLS Sarah Leigh commented on gene: GLS
Likely inborn error of metabolism - targeted testing not possible v2.223 SHMT2 Sarah Leigh commented on gene: SHMT2
Likely inborn error of metabolism - targeted testing not possible v2.223 HS2ST1 Sarah Leigh commented on gene: HS2ST1
Likely inborn error of metabolism - targeted testing not possible v2.223 GALM Sarah Leigh commented on gene: GALM
Likely inborn error of metabolism - targeted testing not possible v2.223 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.223 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.223 AHCY Sarah Leigh commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Likely inborn error of metabolism - targeted testing not possible v2.222 PIGS Sarah Leigh Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 GMPPA Sarah Leigh Source Expert Review Green was added to GMPPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 SHMT2 Sarah Leigh Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 HS2ST1 Sarah Leigh Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 GALM Sarah Leigh Source Expert Review Green was added to GALM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 SLC5A6 Sarah Leigh Source Expert Review Green was added to SLC5A6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.222 AHCY Sarah Leigh Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: CPT2.
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS review. Although most cases are associated with biallelic variants, symptomatic heterozygous patients have also been described (PMID: 15622536; 21913903; 23184072; 24843804). Severity of symptoms tends to correlate with residual CPT enzyme activity but it is plausible that heterozygotes may still be tested under this panel. Both MOIs are listed in OMIM for this phenotype (MIM# 255110)
Likely inborn error of metabolism - targeted testing not possible v2.221 CPT2 Arina Puzriakova Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.220 CPT2 Arina Puzriakova Publications for gene: CPT2 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v2.219 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from 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) to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3.
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.217 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from nephronophthisis-like nephropathy to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Likely inborn error of metabolism - targeted testing not possible v2.216 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to PMID: 20179356
Likely inborn error of metabolism - targeted testing not possible v2.215 RBCK1 Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency 615895 to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Likely inborn error of metabolism - targeted testing not possible v2.214 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Porokeratosis 3, multiple types, OMIM:175900
Likely inborn error of metabolism - targeted testing not possible v2.213 PDK3 Arina Puzriakova Publications for gene: PDK3 were set to 27604308; 26801680; 28902413; 23297365
Likely inborn error of metabolism - targeted testing not possible v2.212 PDK3 Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.212 PDK3 Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413, 32504000, 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism - targeted testing not possible v2.212 SSBP1 Sarah Leigh changed review comment from: Comment on mode of inheritance: The moi for this gene could be changed to BOTH monoallelic and Biallelic as PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants.; to: Comment on mode of inheritance: The moi for this gene should be changed to BOTH monoallelic and Biallelic as PMID: 34905022 & 3155024 report two cases of SSBP1-disease associated with biallelic SSBP1 variants. The variant c.380G>A p.(Arg127Gln)(MAF of 0.00004) was found with c.394A>G p.(Ile132Val)(PMID: 34905022), which had previously been found as a homozygote in a single case (PMID: 31550240).
Likely inborn error of metabolism - targeted testing not possible v2.212 SSBP1 Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255; 31479473; 31479473
Likely inborn error of metabolism - targeted testing not possible v2.211 SSBP1 Sarah Leigh Added comment: Comment on mode of inheritance: The moi for this gene could be changed to BOTH monoallelic and Biallelic as PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants.
Likely inborn error of metabolism - targeted testing not possible v2.211 SSBP1 Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.210 SSBP1 Sarah Leigh Tag Q1_22_MOI tag was added to gene: SSBP1.
Likely inborn error of metabolism - targeted testing not possible v2.210 SSBP1 Sarah Leigh Publications for gene: SSBP1 were set to 31298765
Likely inborn error of metabolism - targeted testing not possible v2.209 SSBP1 Sarah Leigh Phenotypes for gene: SSBP1 were changed from to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Likely inborn error of metabolism - targeted testing not possible v2.208 TARS2 Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.208 TARS2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.208 TARS2 Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.207 TARS2 Sarah Leigh Tag Q4_21_rating tag was added to gene: TARS2.
Likely inborn error of metabolism - targeted testing not possible v2.207 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Likely inborn error of metabolism - targeted testing not possible v2.206 TARS2 Sarah Leigh Added comment: Comment on publications: 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.
Likely inborn error of metabolism - targeted testing not possible v2.206 TARS2 Sarah Leigh 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.
Likely inborn error of metabolism - targeted testing not possible v2.205 TARS2 Sarah Leigh reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.205 HEXB Arina Puzriakova Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Likely inborn error of metabolism - targeted testing not possible v2.204 SLC30A10 Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism) to Hypermanganesemia with dystonia 1, OMIM:613280
Likely inborn error of metabolism - targeted testing not possible v2.203 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders to Aicardi-Goutieres syndrome 2, OMIM:610181
Likely inborn error of metabolism - targeted testing not possible v2.202 APOB Sarah Leigh edited their review of gene: APOB: Added comment: The mode of inheritance for APOB should be both monoallelic and biallelic, as Hypercholesterolemia, familial, 2 OMIM:144010 is monoallelic and Hypobetalipoproteinemia OMIM:615558 is biallelic.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.202 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
Likely inborn error of metabolism - targeted testing not possible v2.201 APOB Sarah Leigh Tag Q4_21_MOI tag was added to gene: APOB.
Likely inborn error of metabolism - targeted testing not possible v2.201 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Likely inborn error of metabolism - targeted testing not possible v2.200 HPRT1 Arina Puzriakova Phenotypes for gene: HPRT1 were changed from HPRT-related gout to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322
Likely inborn error of metabolism - targeted testing not possible v2.199 CLPB Arina Puzriakova Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 25595726
Likely inborn error of metabolism - targeted testing not possible v2.198 CLPB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB.
Likely inborn error of metabolism - targeted testing not possible v2.198 CLPB Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype overlapped with that observed in the recessive disease including neurodevelopmental delay, seizures, 3-MGA-uria, and neutropenia. Some functional studies of heterozygous variants were performed.
Likely inborn error of metabolism - targeted testing not possible v2.198 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.197 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 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 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Likely inborn error of metabolism - targeted testing not possible v2.196 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Likely inborn error of metabolism - targeted testing not possible v2.196 GLS_GCA Arina Puzriakova Phenotypes for STR: GLS_GCA were changed from Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
Likely inborn error of metabolism - targeted testing not possible v2.195 GLS Arina Puzriakova edited their review of gene: GLS: Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.195 GLS Arina Puzriakova commented on gene: GLS: Added 'watchlist_MOI' tag to highlight monoallelic phenotype (MIM# 618339) which is also relevant to this panel, but as there is only a single case reported to date this is not yet sufficient to update the MOI.
Likely inborn error of metabolism - targeted testing not possible v2.195 GLS Arina Puzriakova Phenotypes for gene: GLS were changed from Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733; Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Developmental and epileptic encephalopathy 71, OMIM:618328; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
Likely inborn error of metabolism - targeted testing not possible v2.194 GLS Arina Puzriakova Tag watchlist_moi tag was added to gene: GLS.
Likely inborn error of metabolism - targeted testing not possible v2.194 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Likely inborn error of metabolism - targeted testing not possible v2.193 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Likely inborn error of metabolism - targeted testing not possible v2.193 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Likely inborn error of metabolism - targeted testing not possible v2.192 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Spinocerebellar ataxia 7, OMIM:164500; Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism - targeted testing not possible v2.191 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Likely inborn error of metabolism - targeted testing not possible v2.191 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Likely inborn error of metabolism - targeted testing not possible v2.190 ATXN7 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.
Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Likely inborn error of metabolism - targeted testing not possible v2.190 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861; Posterior segment abnormalities to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Likely inborn error of metabolism - targeted testing not possible v2.189 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861; Posterior segment abnormalities
Likely inborn error of metabolism - targeted testing not possible v2.188 EHBP1L1 Sarah Leigh Tag Q4_21_rating tag was added to gene: EHBP1L1.
Likely inborn error of metabolism - targeted testing not possible v2.188 EHBP1L1 Sarah Leigh Entity copied from Fetal hydrops v1.39
Likely inborn error of metabolism - targeted testing not possible v2.188 EHBP1L1 Sarah Leigh gene: EHBP1L1 was added
gene: EHBP1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1
Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369
Penetrance for gene: EHBP1L1 were set to unknown
Likely inborn error of metabolism - targeted testing not possible v2.187 EHHADH Arina Puzriakova Classified gene: EHHADH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.187 EHHADH Arina Puzriakova Added comment: Comment on list classification: Single family reported with additional functional data which is sufficient evidence to rate as Amber, awaiting further evidence.
Likely inborn error of metabolism - targeted testing not possible v2.187 EHHADH Arina Puzriakova Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.186 EHHADH Arina Puzriakova Phenotypes for gene: EHHADH were changed from L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine to ?Fanconi renotubular syndrome 3, OMIM:615605; L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine
Likely inborn error of metabolism - targeted testing not possible v2.185 EHHADH Arina Puzriakova Publications for gene: EHHADH were set to PMID: 33340416
Likely inborn error of metabolism - targeted testing not possible v2.184 EHHADH Arina Puzriakova Mode of inheritance for gene: EHHADH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v2.183 EHHADH Arina Puzriakova reviewed gene: EHHADH: Rating: ; Mode of pathogenicity: None; Publications: 24401050, 27160910; Phenotypes: ?Fanconi renotubular syndrome 3, OMIM:615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v2.183 ACAT2 Arina Puzriakova Publications for gene: ACAT2 were set to PMID:33340416
Likely inborn error of metabolism - targeted testing not possible v2.182 ACAT2 Arina Puzriakova Phenotypes for gene: ACAT2 were changed from Developmental delay to ?ACAT2 deficiency, OMIM:614055; Increased serum lactate and pyruvate; High levels of ketones; Low levels of cytosolic acetoacetyl-CoA thiolase; Hypotonia; Severe developmental delay
Likely inborn error of metabolism - targeted testing not possible v2.181 ACAT2 Arina Puzriakova Classified gene: ACAT2 as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v2.181 ACAT2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Andžela Lazdāne. Currently associated with a provisional phenotype in OMIM (?ACAT2 deficiency, OMIM:614055) and not yet listed in G2P. In the 2 cases reported to date (PMIDs: 20597, 6150136), diagnoses were made based on molecular rather than genetic findings. Rating Red as at present there is no published evidence of deleterious variants in the ACAT2 gene leading to this phenotype.
Likely inborn error of metabolism - targeted testing not possible v2.181 ACAT2 Arina Puzriakova Gene: acat2 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.180 GMPPB Sarah Leigh Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352; autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Likely inborn error of metabolism - targeted testing not possible v2.179 SLC25A15 Arina Puzriakova Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v2.178 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from 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 to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570
Likely inborn error of metabolism - targeted testing not possible v2.177 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, OMIM:245200
Likely inborn error of metabolism - targeted testing not possible v2.176 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders to Sjogren-Larsson syndrome, OMIM:270200
Likely inborn error of metabolism - targeted testing not possible v2.175 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism - targeted testing not possible v2.174 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from 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 to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism - targeted testing not possible v2.173 FDX2 Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Likely inborn error of metabolism - targeted testing not possible v2.172 ARG1 Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800 to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia, OMIM:207800
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh commented on gene: APOA5: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh Tag Q3_21_MOI tag was added to gene: APOA5.
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh edited their review of gene: APOA5: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for familial hypertriglycidaemia. Both risk polymorphisms (PMID 12417525; 12915450) and rarer APOA5 variants have been identified in hyperchylomicronemia, late-onset (OMIM:144650) and susceptibility to hypertriglyceridemia (OMIM:145750)(PMID: 23307945; 27678447; 16200213). In general, cases carrying biallelic variants (both polymorphisms and rarer variants) have a severer phenotype than monoallelic carriers (PMID: 12417525; 23307945; 27678447; 16200213).; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525; 23307945
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525
Likely inborn error of metabolism - targeted testing not possible v2.170 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788
Likely inborn error of metabolism - targeted testing not possible v2.169 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Likely inborn error of metabolism - targeted testing not possible v2.168 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Likely inborn error of metabolism - targeted testing not possible v2.168 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Likely inborn error of metabolism - targeted testing not possible v2.167 PIGS Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.167 PIGS Arina Puzriakova gene: PIGS was added
gene: PIGS was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
for-review tags were added to gene: PIGS.
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143
Likely inborn error of metabolism - targeted testing not possible v2.166 GMPPA Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.166 GMPPA Arina Puzriakova gene: GMPPA was added
gene: GMPPA was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
for-review tags were added to gene: GMPPA.
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193; 28574218
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Likely inborn error of metabolism - targeted testing not possible v2.165 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Tag Q2_21_rating tag was added to gene: GALNT2.
Likely inborn error of metabolism - targeted testing not possible v2.165 GALNT2 Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.165 GALNT2 Arina Puzriakova gene: GALNT2 was added
gene: GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature
for-review tags were added to gene: GALNT2.
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 27508872; 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885
Likely inborn error of metabolism - targeted testing not possible v2.164 FUK Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.164 FUK Arina Puzriakova gene: FUK was added
gene: FUK was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
watchlist, new-gene-name tags were added to gene: FUK.
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Likely inborn error of metabolism - targeted testing not possible v2.163 EOGT Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.163 EOGT Arina Puzriakova gene: EOGT was added
gene: EOGT was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: EOGT.
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOGT were set to 23522784; 31368252; 29924900
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124
Likely inborn error of metabolism - targeted testing not possible v2.162 SSR3 Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.162 SSR3 Arina Puzriakova gene: SSR3 was added
gene: SSR3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Likely inborn error of metabolism - targeted testing not possible v2.161 CSGALNACT1 Arina Puzriakova Tag for-review was removed from gene: CSGALNACT1.
Tag Q2_21_rating tag was added to gene: CSGALNACT1.
Likely inborn error of metabolism - targeted testing not possible v2.161 CSGALNACT1 Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.161 CSGALNACT1 Arina Puzriakova gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Inborn errors of metabolism. Sources: Expert list,Expert Review Amber
for-review tags were added to gene: CSGALNACT1.
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655; 31705726
Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Likely inborn error of metabolism - targeted testing not possible v2.160 B4GALNT1 Arina Puzriakova Entity copied from Congenital disorders of glycosylation v2.74
Likely inborn error of metabolism - targeted testing not possible v2.160 B4GALNT1 Arina Puzriakova gene: B4GALNT1 was added
gene: B4GALNT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: B4GALNT1.
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 23746551; 24103911
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213
Likely inborn error of metabolism - targeted testing not possible v2.159 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.158 APOA1 Sarah Leigh commented on gene: APOA1: Both biallelic and monoallelic APOA1 variants are associated with OMIM:618463, however, heterozygous cases have either a milder phenotype or are unaffected. Certain heterozygous APOA1 variants are regarded as Amyloidogenic and are associated with OMIM:105200 (PMID 32022753, 24 variants listed in table 1).
Likely inborn error of metabolism - targeted testing not possible v2.158 APOA1 Sarah Leigh Phenotypes for gene: APOA1 were changed from 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 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099; ApoA-I and apoC-III deficiency, combined OMIM:618463; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463; hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Likely inborn error of metabolism - targeted testing not possible v2.157 APOA1 Sarah Leigh Publications for gene: APOA1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.156 COQ2 Ivone Leong Added comment: Comment on phenotypes: Previously:
{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
Likely inborn error of metabolism - targeted testing not possible v2.156 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from {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 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Likely inborn error of metabolism - targeted testing not possible v2.155 VKORC1 Ivone Leong Phenotypes for gene: VKORC1 were changed from Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders to Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473
Likely inborn error of metabolism - targeted testing not possible v2.154 EHHADH Andžela Lazdāne gene: EHHADH was added
gene: EHHADH was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: EHHADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHHADH were set to PMID: 33340416
Phenotypes for gene: EHHADH were set to L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine
Review for gene: EHHADH was set to AMBER
Added comment: Fanconi renotubular syndrome type 3.
The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation.
IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.154 IDH1 Andžela Lazdāne gene: IDH1 was added
gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH1 were set to PMID: 33340416
Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine
Review for gene: IDH1 was set to AMBER
Added comment: Isocitrate dehydrogenase 1 deficiency.

IEM Nosology Group (IEMbase):Disorders of the Krebs cycle. The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.154 ACAT2 Andžela Lazdāne reviewed gene: ACAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:33340416; Phenotypes: Developmental delay; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.154 ACAT2 Andžela Lazdāne Deleted their review
Likely inborn error of metabolism - targeted testing not possible v2.154 ACAT2 Andžela Lazdāne commented on gene: ACAT2: ACAT2 gene is included in international classification of inherited metabolic
disorders (ICIMD).
Likely inborn error of metabolism - targeted testing not possible v2.154 ACAT2 Andžela Lazdāne changed review comment from: Acetoacetyl-CoA thiolase deficiency (cytosolic)

IEM Nosology Group:Disorders of ketone body metabolism
Sources: Literature; to: Acetoacetyl-CoA thiolase deficiency (cytosolic)

IEM Nosology Group:Disorders of ketone body metabolism
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.154 ACAT2 Andžela Lazdāne gene: ACAT2 was added
gene: ACAT2 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: ACAT2 was set to Unknown
Publications for gene: ACAT2 were set to PMID:33340416
Phenotypes for gene: ACAT2 were set to Developmental delay
Review for gene: ACAT2 was set to AMBER
Added comment: Acetoacetyl-CoA thiolase deficiency (cytosolic)

IEM Nosology Group:Disorders of ketone body metabolism
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.154 PEX6 Sarah Leigh Tag Q3_21_MOI was removed from gene: PEX6.
Likely inborn error of metabolism - targeted testing not possible v2.154 PEX6 Sarah Leigh Tag Q3_21_MOI tag was added to gene: PEX6.
Likely inborn error of metabolism - targeted testing not possible v2.154 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27604308; 29220678; 20301621
Likely inborn error of metabolism - targeted testing not possible v2.153 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 to Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862; peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930; Peroxisome biogenesis disorder 4B OMIM:614863; peroxisome biogenesis disorder 4B MONDO:0013931
Likely inborn error of metabolism - targeted testing not possible v2.153 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.152 PEX6 Sarah Leigh reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220678, 20301621; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862, peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930, Peroxisome biogenesis disorder 4B OMIM:614863, peroxisome biogenesis disorder 4B MONDO:0013931; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.152 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from 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 to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndrome MONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Likely inborn error of metabolism - targeted testing not possible v2.151 NDUFAF8 Ivone Leong Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Likely inborn error of metabolism - targeted testing not possible v2.150 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.150 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Lactic acidosis; Methylglutaconic aciduria
Likely inborn error of metabolism - targeted testing not possible v2.149 ACOX1 Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency; Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Likely inborn error of metabolism - targeted testing not possible v2.148 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to 27604308; 24816252; 29903433
Likely inborn error of metabolism - targeted testing not possible v2.147 ALDH18A1 Sarah Leigh edited their review of gene: ALDH18A1: Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.147 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal, as reduced levels of proline, ornithine, arginine, and citrulline have been reported in cases with both monoallelic and biallelic ALDH18A1 variants (PMIDs 11092761; 22170564; 26320891).
Likely inborn error of metabolism - targeted testing not possible v2.147 ALDH18A1 Sarah Leigh Tag Q3_21_MOI tag was added to gene: ALDH18A1.
Likely inborn error of metabolism - targeted testing not possible v2.147 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v2.146 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type Ie, OMIM:608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v2.145 FAR1 Arina Puzriakova Publications for gene: FAR1 were set to
Likely inborn error of metabolism - targeted testing not possible v2.144 FAR1 Arina Puzriakova Classified gene: FAR1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.144 FAR1 Arina Puzriakova Added comment: Comment on list classification: In view of the normal metabolic screening (excluding very specific functional work, which will not be in routine NHS practice) there is no clear alignment with the metabolic panels and therefore FAR1 should be demoted from Green to Red at the next GMS panel update (discussed with Helen Brittain, Genomic England Clinical Team)
Likely inborn error of metabolism - targeted testing not possible v2.144 FAR1 Arina Puzriakova Gene: far1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.143 FAR1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: FAR1.
Likely inborn error of metabolism - targeted testing not possible v2.143 FAR1 Arina Puzriakova reviewed gene: FAR1: Rating: RED; Mode of pathogenicity: None; Publications: 25439727, 30561787, 33239752; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.143 NUS1 Dmitrijs Rots reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33731878, 32334381, 32485575, 31656175, 25066056; Phenotypes: intellectual disability, seizures, ataxia, tremor, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.143 NUS1 Dmitrijs Rots Deleted their review
Likely inborn error of metabolism - targeted testing not possible v2.143 NUS1 Dmitrijs Rots reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33731878; Phenotypes: intellectual disability, seizures, ataxia, dystonia, tremor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism - targeted testing not possible v2.143 MRM2 Arina Puzriakova Phenotypes for gene: MRM2 were changed from ?Mitochondrial DNA depletion syndrome 17, 618567 to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Likely inborn error of metabolism - targeted testing not possible v2.142 SLC17A5 Arina Puzriakova Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369; Sialic acid storage disorder, infantile, 269920 to Salla disease, OMIM:604369; Sialic acid storage disorder, infantile, OMIM:269920
Likely inborn error of metabolism - targeted testing not possible v2.141 NAXD Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.165
Likely inborn error of metabolism - targeted testing not possible v2.141 NAXD Ivone Leong gene: NAXD was added
gene: NAXD was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: NAXD.
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410; 33224489; 31755961
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
Likely inborn error of metabolism - targeted testing not possible v2.140 APOPT1 Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061; Isolated complex IV deficiency
Likely inborn error of metabolism - targeted testing not possible v2.139 RPIA Arina Puzriakova Phenotypes for gene: RPIA were changed from Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611 to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); Ribose 5-phosphate isomerase deficiency, OMIM:608611
Likely inborn error of metabolism - targeted testing not possible v2.138 NFU1 Arina Puzriakova Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v2.137 NAXE Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Likely inborn error of metabolism - targeted testing not possible v2.136 ABCB7 Sarah Leigh Added comment: Comment on phenotypes: Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));congenital cerebellar hypoplasia/atrophy (PMID: 26242992).;Disorders of iron homeostasis
Likely inborn error of metabolism - targeted testing not possible v2.136 ABCB7 Sarah Leigh Phenotypes for gene: ABCB7 were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis to Anemia, sideroblastic, with ataxia OMIM:301310; X-linked sideroblastic anemia with ataxia MONDO:0010524
Likely inborn error of metabolism - targeted testing not possible v2.135 AFG3L2 Sarah Leigh Added comment: Comment on 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
Likely inborn error of metabolism - targeted testing not possible v2.135 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from 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 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Likely inborn error of metabolism - targeted testing not possible v2.134 PMPCB Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Likely inborn error of metabolism - targeted testing not possible v2.133 FXN_GAA Sarah Leigh Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Likely inborn error of metabolism - targeted testing not possible v2.132 FXN Sarah Leigh Added comment: Comment on phenotypes: 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 v2.132 FXN Sarah Leigh Phenotypes for gene: FXN were changed from 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)) to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Likely inborn error of metabolism - targeted testing not possible v2.131 WFS1 Eleanor Williams Added comment: Comment on phenotypes: Previous phenotypes were: 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 v2.131 WFS1 Eleanor Williams Phenotypes for gene: WFS1 were changed from 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) to Wolfram syndrome 1, OMIM:222300; Wolfram-like syndrome, autosomal dominant, OMIM:614296; Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853
Likely inborn error of metabolism - targeted testing not possible v2.130 WFS1 Eleanor Williams Publications for gene: WFS1 were set to 27604308; 30171196
Likely inborn error of metabolism - targeted testing not possible v2.129 WFS1 Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.129 OCRL Eleanor Williams Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797
Likely inborn error of metabolism - targeted testing not possible v2.128 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
Likely inborn error of metabolism - targeted testing not possible v2.127 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.127 OPA1 Sarah Leigh Added comment: Comment on 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))
Likely inborn error of metabolism - targeted testing not possible v2.127 OPA1 Sarah Leigh Phenotypes for gene: OPA1 were changed from 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)) to ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858
Likely inborn error of metabolism - targeted testing not possible v2.126 OPA1 Sarah Leigh Publications for gene: OPA1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.125 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Likely inborn error of metabolism - targeted testing not possible v2.124 NDUFB7 Sarah Leigh Added comment: Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)
Likely inborn error of metabolism - targeted testing not possible v2.124 NDUFB7 Sarah Leigh Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype; Isolated complex I deficiency to Congenital lactic acidosis; hypertrophic cardiomyopathy
Likely inborn error of metabolism - targeted testing not possible v2.123 NDUFB7 Sarah Leigh Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.122 NDUFB7 Sarah Leigh Tag watchlist tag was added to gene: NDUFB7.
Likely inborn error of metabolism - targeted testing not possible v2.122 NDUFB7 Sarah Leigh Classified gene: NDUFB7 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.122 NDUFB7 Sarah Leigh Added comment: Comment on list classification: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371).
Likely inborn error of metabolism - targeted testing not possible v2.122 NDUFB7 Sarah Leigh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.121 NDUFB7 Sarah Leigh Publications for gene: NDUFB7 were set to 33502047; 27626371
Likely inborn error of metabolism - targeted testing not possible v2.121 NDUFB7 Sarah Leigh Publications for gene: NDUFB7 were set to
Likely inborn error of metabolism - targeted testing not possible v2.120 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Likely inborn error of metabolism - targeted testing not possible v2.119 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism - targeted testing not possible v2.119 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism - targeted testing not possible v2.118 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism - targeted testing not possible v2.118 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266
Likely inborn error of metabolism - targeted testing not possible v2.117 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 618244 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Likely inborn error of metabolism - targeted testing not possible v2.117 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308
Likely inborn error of metabolism - targeted testing not possible v2.116 NDUFA12 Sarah Leigh edited their review of gene: NDUFA12: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in five unrelated cases, together with supportive studies. Phenotypic variability was evident in the cases reported (PMID: 21617257; 33715266).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.116 NDUFA12 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFA12.
Likely inborn error of metabolism - targeted testing not possible v2.116 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.116 NDUFA12 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.116 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.115 DPYS Arina Puzriakova Phenotypes for gene: DPYS were changed from Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) to Dihydropyrimidinuria, OMIM:222748; Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v2.114 DPM2 Arina Puzriakova Publications for gene: DPM2 were set to 23109149
Likely inborn error of metabolism - targeted testing not possible v2.113 DPM2 Arina Puzriakova Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu 615042; Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042
Likely inborn error of metabolism - targeted testing not possible v2.112 B4GALT1 Arina Puzriakova Phenotypes for gene: B4GALT1 were changed from Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 to Congenital disorder of glycosylation, type IId, OMIM:607091
Likely inborn error of metabolism - targeted testing not possible v2.111 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Likely inborn error of metabolism - targeted testing not possible v2.110 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.;Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism - targeted testing not possible v2.110 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from 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 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Likely inborn error of metabolism - targeted testing not possible v2.109 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Likely inborn error of metabolism - targeted testing not possible v2.108 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Likely inborn error of metabolism - targeted testing not possible v2.107 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from 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)) to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Likely inborn error of metabolism - targeted testing not possible v2.106 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Likely inborn error of metabolism - targeted testing not possible v2.105 ALDH5A1 Sarah Leigh Publications for gene: ALDH5A1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.104 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Likely inborn error of metabolism - targeted testing not possible v2.103 GNE Sarah Leigh Added comment: Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v2.103 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Likely inborn error of metabolism - targeted testing not possible v2.102 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.102 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.101 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Likely inborn error of metabolism - targeted testing not possible v2.101 C12orf65 Catherine Snow commented on gene: C12orf65
Likely inborn error of metabolism - targeted testing not possible v2.101 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Likely inborn error of metabolism - targeted testing not possible v2.101 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Likely inborn error of metabolism - targeted testing not possible v2.101 G6PC Catherine Snow commented on gene: G6PC
Likely inborn error of metabolism - targeted testing not possible v2.101 IDH3B Eleanor Williams Source: Expert Review Amber was removed from gene: IDH3B
Likely inborn error of metabolism - targeted testing not possible v2.100 SDHB Eleanor Williams Source: Expert Review Amber was removed from gene: SDHB
Likely inborn error of metabolism - targeted testing not possible v2.99 TANGO2 Eleanor Williams Source: Expert Review Red was removed from gene: TANGO2
Likely inborn error of metabolism - targeted testing not possible v2.98 SLC52A3 Eleanor Williams Source: Expert Review Red was removed from gene: SLC52A3
Likely inborn error of metabolism - targeted testing not possible v2.97 SLC52A2 Eleanor Williams Source: Expert Review Red was removed from gene: SLC52A2
Likely inborn error of metabolism - targeted testing not possible v2.96 SLC25A22 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A22
Likely inborn error of metabolism - targeted testing not possible v2.95 SLC25A20 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A20
Likely inborn error of metabolism - targeted testing not possible v2.94 SLC22A5 Eleanor Williams Source: Expert Review Red was removed from gene: SLC22A5
Likely inborn error of metabolism - targeted testing not possible v2.93 SAMHD1 Eleanor Williams Source: Expert Review Red was removed from gene: SAMHD1
Likely inborn error of metabolism - targeted testing not possible v2.92 PYCR1 Eleanor Williams Source: Expert Review Red was removed from gene: PYCR1
Likely inborn error of metabolism - targeted testing not possible v2.91 PPOX Eleanor Williams Source: Expert Review Red was removed from gene: PPOX
Likely inborn error of metabolism - targeted testing not possible v2.90 OXCT1 Eleanor Williams Source: Expert Review Red was removed from gene: OXCT1
Likely inborn error of metabolism - targeted testing not possible v2.89 L2HGDH Eleanor Williams Source: Expert Review Red was removed from gene: L2HGDH
Likely inborn error of metabolism - targeted testing not possible v2.88 IER3IP1 Eleanor Williams Source: Expert Review Red was removed from gene: IER3IP1
Likely inborn error of metabolism - targeted testing not possible v2.87 HMGCS2 Eleanor Williams Source: Expert Review Red was removed from gene: HMGCS2
Likely inborn error of metabolism - targeted testing not possible v2.86 HMGCL Eleanor Williams Source: Expert Review Red was removed from gene: HMGCL
Likely inborn error of metabolism - targeted testing not possible v2.85 HADHB Eleanor Williams Source: Expert Review Red was removed from gene: HADHB
Likely inborn error of metabolism - targeted testing not possible v2.84 HADHA Eleanor Williams Source: Expert Review Red was removed from gene: HADHA
Likely inborn error of metabolism - targeted testing not possible v2.83 GLUD1 Eleanor Williams Source: Expert Review Red was removed from gene: GLUD1
Likely inborn error of metabolism - targeted testing not possible v2.82 GATM Eleanor Williams Source: Expert Review Red was removed from gene: GATM
Likely inborn error of metabolism - targeted testing not possible v2.81 ETFB Eleanor Williams Source: Expert Review Red was removed from gene: ETFB
Likely inborn error of metabolism - targeted testing not possible v2.80 ETFA Eleanor Williams Source: Expert Review Red was removed from gene: ETFA
Likely inborn error of metabolism - targeted testing not possible v2.79 DHTKD1 Eleanor Williams Source: Expert Review Red was removed from gene: DHTKD1
Likely inborn error of metabolism - targeted testing not possible v2.78 DARS Eleanor Williams Source: Expert Review Red was removed from gene: DARS
Likely inborn error of metabolism - targeted testing not possible v2.77 D2HGDH Eleanor Williams Source: Expert Review Red was removed from gene: D2HGDH
Likely inborn error of metabolism - targeted testing not possible v2.76 CPT2 Eleanor Williams Source: Expert Review Red was removed from gene: CPT2
Likely inborn error of metabolism - targeted testing not possible v2.75 CPT1A Eleanor Williams Source: Expert Review Red was removed from gene: CPT1A
Likely inborn error of metabolism - targeted testing not possible v2.74 CHKB Eleanor Williams Source: Expert Review Red was removed from gene: CHKB
Likely inborn error of metabolism - targeted testing not possible v2.73 C19orf12 Eleanor Williams Source: Expert Review Red was removed from gene: C19orf12
Likely inborn error of metabolism - targeted testing not possible v2.72 ACAT1 Eleanor Williams Source: Expert Review Red was removed from gene: ACAT1
Likely inborn error of metabolism - targeted testing not possible v2.71 ACADVL Eleanor Williams Source: Expert Review Red was removed from gene: ACADVL
Likely inborn error of metabolism - targeted testing not possible v2.70 ACADSB Eleanor Williams Source: Expert Review Red was removed from gene: ACADSB
Likely inborn error of metabolism - targeted testing not possible v2.69 ACADS Eleanor Williams Source: Expert Review Red was removed from gene: ACADS
Likely inborn error of metabolism - targeted testing not possible v2.68 ACADM Eleanor Williams Source: Expert Review Red was removed from gene: ACADM
Likely inborn error of metabolism - targeted testing not possible v2.67 NDUFC2 Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.66 NDUFC2 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFC2.
Likely inborn error of metabolism - targeted testing not possible v2.66 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.66 NDUFC2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.66 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.65 NDUFC2 Sarah Leigh edited their review of gene: NDUFC2: Added comment: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (10 May 2019, Oxford University Hospitals NHS Trust).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.65 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Likely inborn error of metabolism - targeted testing not possible v2.64 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Likely inborn error of metabolism - targeted testing not possible v2.64 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Likely inborn error of metabolism - targeted testing not possible v2.63 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.63 POMK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.63 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.62 POMK Sarah Leigh Tag Q2_21_rating tag was added to gene: POMK.
Likely inborn error of metabolism - targeted testing not possible v2.62 POMK Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.62 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Likely inborn error of metabolism - targeted testing not possible v2.61 POMK Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318
Likely inborn error of metabolism - targeted testing not possible v2.60 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Likely inborn error of metabolism - targeted testing not possible v2.59 GORAB Sarah Leigh edited their review of gene: GORAB: Added comment: PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica".
Therefore variants in GORAB are relevant to this panel based on this mechanism.; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.59 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Likely inborn error of metabolism - targeted testing not possible v2.58 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Likely inborn error of metabolism - targeted testing not possible v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Likely inborn error of metabolism - targeted testing not possible v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Likely inborn error of metabolism - targeted testing not possible v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619
Likely inborn error of metabolism - targeted testing not possible v2.56 GORAB Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.56 GORAB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism - targeted testing not possible v2.56 GORAB Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.55 GORAB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB.
Likely inborn error of metabolism - targeted testing not possible v2.55 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880
Likely inborn error of metabolism - targeted testing not possible v2.54 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Likely inborn error of metabolism - targeted testing not possible v2.53 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26912795
Likely inborn error of metabolism - targeted testing not possible v2.53 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Likely inborn error of metabolism - targeted testing not possible v2.52 TRAPPC11 Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.52 TRAPPC11 Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.51 TRAPPC11 Sarah Leigh reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.51 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.51 AASS Zornitza Stark reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: None; Publications: 23570448; Phenotypes: Hyperlysinemia, MIM# 238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.51 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717
Review for gene: PNPLA2 was set to GREEN
Added comment: PLPLA2 is a triglyceride lipase and this is a lipid storage disorder.
Sources: Expert Review
Likely inborn error of metabolism - targeted testing not possible v2.51 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 23519211; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Review for gene: POMK was set to GREEN
gene: POMK was marked as current diagnostic
Added comment: Other enzyme deficiencies causing dystroglycanopathies are included in the panel.
Sources: Expert Review
Likely inborn error of metabolism - targeted testing not possible v2.51 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Likely inborn error of metabolism - targeted testing not possible v2.51 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.51 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Likely inborn error of metabolism - targeted testing not possible v2.50 GLS_GCA Arina Puzriakova Classified STR: GLS_GCA as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v2.50 GLS_GCA Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases and supportive functional data for inclusion as diagnostic-grade.

However, detection of this 5' UTR triplet expansion must first be validated within the Genomics England pipeline. In the meantime, rating Red but will raise the STR for validation with the Rare Disease team.
Likely inborn error of metabolism - targeted testing not possible v2.50 GLS_GCA Arina Puzriakova Str: gls_gca has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.49 GLS_GCA Arina Puzriakova STR: GLS_GCA was added
STR: GLS_GCA was added to Inborn errors of metabolism. Sources: Literature
STR, NGS Not Validated, for-review tags were added to STR: GLS_GCA.
Mode of inheritance for STR: GLS_GCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS_GCA were set to 30970188
Phenotypes for STR: GLS_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
Review for STR: GLS_GCA was set to GREEN
Added comment: GLS is associated with relevant phenotypes in OMIM, but currently is not in Gene2Phenoype.
----------

- PMID: 30970188 (2019) - Three unrelated cases who presented with an early-onset global developmental delay, progressive ataxia, and elevated levels of glutamine (MIM# 618412). One patient also showed cerebellar atrophy.

All 3 individuals harboured a large trinucleotide (GCA) repeat expansion in the 5' UTR (length: 680-1,500-copy repeats). The repeat expansion was found in homozygosity in 1 case, and occurred in compound heterozygosity with an SNV in the other two cases (missense and frameshift variant, respectively). Functional analysis showed the repeat expansion results in reduced expression and glutaminase deficiency.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.48 GLS Arina Puzriakova Classified gene: GLS as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.48 GLS Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases, supported by functional data, to rate this gene Green - however, detection of the 5' UTR triplet expansion (PMID:30970188) has not yet been validated within the Genomics England pipeline.

When excluding cases with the STR, the remaining evidence is not sufficient for inclusion as diagnostic-grade and therefore this gene is tagged 'for-review' to assess whether it should be downgraded to Amber until the STR is validated or additional cases arise.
Likely inborn error of metabolism - targeted testing not possible v2.48 GLS Arina Puzriakova Gene: gls has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.47 GLS Arina Puzriakova Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412 to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733; Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685
Likely inborn error of metabolism - targeted testing not possible v2.46 GLS Arina Puzriakova Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism - targeted testing not possible v2.45 GLS Arina Puzriakova Added comment: Comment on mode of inheritance: As evidence for pathogenicity of monoallelic variants is limited (currently only 1 case), MOI will remain as 'Biallelic' until further cases emerge that support an association between monoallelic variants and disease.
Likely inborn error of metabolism - targeted testing not possible v2.45 GLS Arina Puzriakova Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.44 GLS Arina Puzriakova Tag STR tag was added to gene: GLS.
Tag for-review tag was added to gene: GLS.
Likely inborn error of metabolism - targeted testing not possible v2.44 GLS Arina Puzriakova reviewed gene: GLS: Rating: ; Mode of pathogenicity: None; Publications: 30970188, 30575854, 30239721; Phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412, Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733, Developmental and epileptic encephalopathy 71, OMIM:618328, Developmental and epileptic encephalopathy, 71, MONDO:0032678, ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.44 NUS1 Eleanor Williams Classified gene: NUS1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.44 NUS1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber on advice from Genomics England clinical team. 1 case plus some functional data.
Likely inborn error of metabolism - targeted testing not possible v2.44 NUS1 Eleanor Williams Gene: nus1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.43 NUS1 Eleanor Williams Publications for gene: NUS1 were set to 25066056
Likely inborn error of metabolism - targeted testing not possible v2.42 NUS1 Eleanor Williams Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa 617082 to ?Congenital disorder of glycosylation, type 1aa OMIM:617082; congenital disorder of glycosylation, type IAA MONDO:0014904
Likely inborn error of metabolism - targeted testing not possible v2.42 NUS1 Eleanor Williams Publications for gene: NUS1 were set to
Likely inborn error of metabolism - targeted testing not possible v2.41 NUS1 Eleanor Williams edited their review of gene: NUS1: Added comment: Provisionally associated with ?Congenital disorder of glycosylation, type 1aa #617082 (AR) in OMIM based on family reported in Park et al 2014 (PMID: 25066056). They describe a family of Roma origin in which 2 out of 4 siblings presented with congenital scoliosis, severe neurological impairment, refractory epilepsy, hearing deficit and visual impairment with discrete bilateral macular lesions. A homozgyous missense mutation, R290H, was found in NUS1 (called NGBR in the paper) by exome sequencing. It segregated with the disease in the family. Patient fibroblasts showed reduced dolichol profiles and enhanced accumulation of free cholesterol as do fibroblasts from mice lacking NgBR.; Changed publications: 25066056; Changed phenotypes: ?Congenital disorder of glycosylation, type 1aa OMIM:617082, congenital disorder of glycosylation, type IAA MONDO:0014904
Likely inborn error of metabolism - targeted testing not possible v2.41 NUS1 Eleanor Williams reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Congenital disorder of glycosylation, type 1aa 617082 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.41 MPI Arina Puzriakova Phenotypes for gene: MPI were changed from Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ib 602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v2.40 MPI Arina Puzriakova Publications for gene: MPI were set to 10980531
Likely inborn error of metabolism - targeted testing not possible v2.39 SHMT2 Arina Puzriakova Classified gene: SHMT2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.39 SHMT2 Arina Puzriakova Gene: shmt2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.38 SHMT2 Arina Puzriakova Classified gene: SHMT2 as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v2.38 SHMT2 Arina Puzriakova Added comment: Comment on list classification: New gene added as Amber but can be promoted to Green at the next GMS panel update (added 'for-review' tag)
Likely inborn error of metabolism - targeted testing not possible v2.38 SHMT2 Arina Puzriakova Gene: shmt2 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.37 SHMT2 Arina Puzriakova commented on gene: SHMT2: SHMT2 is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'SHMT2-related neurodevelopmental syndrome', and is also associated with 'Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, MIM# 619121' in OMIM.
Likely inborn error of metabolism - targeted testing not possible v2.37 SHMT2 Arina Puzriakova gene: SHMT2 was added
gene: SHMT2 was added to Inborn errors of metabolism. Sources: Literature
for-review tags were added to gene: SHMT2.
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Review for gene: SHMT2 was set to GREEN
Added comment: PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

Clinical features include dysmorphism, congenital microcephaly, hypertrophic cardiomyopathy or atrial-septal defects, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy.

SHMT2 encodes the mitochondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

While plasma metabolites were within normal range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts, decrease in glycine/serine ratios, impaired folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.36 HS2ST1 Ivone Leong Classified gene: HS2ST1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.36 HS2ST1 Ivone Leong Gene: hs2st1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.35 HS2ST1 Ivone Leong gene: HS2ST1 was added
gene: HS2ST1 was added to Inborn errors of metabolism. Sources: Literature
for-review tags were added to gene: HS2ST1.
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies
Review for gene: HS2ST1 was set to AMBER
Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum, skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene should be considered for Green gene rating status at the next review.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.34 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Likely inborn error of metabolism - targeted testing not possible v2.33 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.33 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Likely inborn error of metabolism - targeted testing not possible v2.32 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.31 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from 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 to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Likely inborn error of metabolism - targeted testing not possible v2.30 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 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); Hepatic failure, early onset, and neurologic disorder to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Likely inborn error of metabolism - targeted testing not possible v2.29 SCO1 Arina Puzriakova Publications for gene: SCO1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.28 GALE Ivone Leong Phenotypes for gene: GALE were changed from Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) to Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism); Galactose epimerase deficiency, OMIM:230350; MONDO:0009257
Likely inborn error of metabolism - targeted testing not possible v2.27 GALM Ivone Leong Phenotypes for gene: GALM were changed from Galactosemia IV, 618881 to Galactosemia IV, OMIM:618881; MONDO:0030105
Likely inborn error of metabolism - targeted testing not possible v2.26 GALM Ivone Leong Classified gene: GALM as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.26 GALM Ivone Leong Gene: galm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.25 GALM Ivone Leong gene: GALM was added
gene: GALM was added to Inborn errors of metabolism. Sources: Expert Review,Literature
for-review tags were added to gene: GALM.
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to Galactosemia IV, 618881
Review for gene: GALM was set to GREEN
Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review.

Review from Zornitza Stark (Australian Genomics) on the Cholestasis panel:
Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) Note only two individuals were reported as having transient cholestasis. Sources: Literature
Zornitza Stark (Australian Genomics), 2 May 2020
Sources: Expert Review, Literature
Likely inborn error of metabolism - targeted testing not possible v2.24 SLC5A6 Sarah Leigh changed review comment from: Comment on list classification: Based on five variants in three unrelated cases, together with supportive aminal model studies.; to: Comment on list classification: Based on five variants in three unrelated cases, together with supportive animal model studies.
Likely inborn error of metabolism - targeted testing not possible v2.24 SLC5A6 Arina Puzriakova Classified gene: SLC5A6 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.24 SLC5A6 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Likely inborn error of metabolism - targeted testing not possible v2.24 SLC5A6 Arina Puzriakova Gene: slc5a6 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.23 SLC5A6 Arina Puzriakova Tag for-review tag was added to gene: SLC5A6.
Likely inborn error of metabolism - targeted testing not possible v2.23 XYLT1 Arina Puzriakova Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 to Desbuquois dysplasia 2, 615777
Likely inborn error of metabolism - targeted testing not possible v2.22 AHCY Arina Puzriakova Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Disorders of the metabolism of sulphur amino acids
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Mode of inheritance for gene: AHCY was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.21 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder due to variants in AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.20 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987
Likely inborn error of metabolism - targeted testing not possible v2.19 AHCY Arina Puzriakova Publications for gene: AHCY were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova Tag treatable tag was added to gene: AHCY.
Tag for-review tag was added to gene: AHCY.
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova commented on gene: AHCY: Added 'treatable' tag as some patients have shown improvement following dietary management (particularly methionine restriction and supplementation with creatine and phosphatidylcholine)
Likely inborn error of metabolism - targeted testing not possible v2.18 AHCY Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024124, 16435181, 16736098, 20852937, 22959829, 26095522, 26527160, 28779239, 30121674, 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.18 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to
Likely inborn error of metabolism - targeted testing not possible v2.17 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.17 TKFC Arina Puzriakova Classified gene: TKFC as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.17 TKFC Arina Puzriakova Added comment: Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist).
Likely inborn error of metabolism - targeted testing not possible v2.17 TKFC Arina Puzriakova Gene: tkfc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.16 TKFC Arina Puzriakova gene: TKFC was added
gene: TKFC was added to Inborn errors of metabolism. Sources: Literature
watchlist tags were added to gene: TKFC.
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, 618805
Review for gene: TKFC was set to AMBER
Added comment: Associated with phenotype in OMIM, and a possible gene for TKFC-related Cataracts and Multisystem Disease in G2P.

PMID: 32004446 (2020) - Two sib pairs from two unrelated consanguineous families with an inborn error of metabolism caused by distinct homozygous variants in TKFC. In Family 1, both sibs had congenital cataracts but otherwise presented disparate phenotypes. The older sister had DD (motor and speech) and cerebellar hypoplasia; while the younger sister had liver dysfunction and fatal cardiomyopathy at 11 weeks with severe lactic acidosis following a febrile illness. In Family 2, the brother exhibited global DD as well as bilateral cataracts at 22 months. He developed progressive non-cholestatic liver failure, and at 3yrs-10months he could not walk independently and had no words. His older sister, had delayed speech development and learning difficulties, but is otherwise well and did not have cataracts.

Both variants segregated with disease in each family, and some functional data of the variants using yeast cells.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.15 NGLY1 Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.15 ALG14 Sarah Leigh edited their review of gene: ALG14: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.15 ALG14 Sarah Leigh Tag for-review tag was added to gene: ALG14.
Likely inborn error of metabolism - targeted testing not possible v2.15 ALG14 Sarah Leigh Publications for gene: ALG14 were set to 27604308; 23404334
Likely inborn error of metabolism - targeted testing not possible v2.14 ALG14 Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.14 ALG14 Sarah Leigh Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.
Likely inborn error of metabolism - targeted testing not possible v2.14 ALG14 Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.13 DPYS Eleanor Williams Publications for gene: DPYS were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.12 ISCU Sarah Leigh changed review comment from: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded here.; to: Comment on mode of inheritance: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant missense p.G97V variant has been reported and therefore this may represent a specific mechanism of action. Further evidence is needed to determine which (if any) other monoallelic variants will cause disease beyond mitochondrial myopathy, which justifies the mode of inheritance recorded.
Likely inborn error of metabolism - targeted testing not possible v2.12 ISCU Sarah Leigh changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v2.12 DDC Sarah Leigh Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency to Aromatic L-amino acid decarboxylase deficiency 608643
Likely inborn error of metabolism - targeted testing not possible v2.11 DDC Sarah Leigh Publications for gene: DDC were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v2.10 SLC5A6 Sarah Leigh Classified gene: SLC5A6 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.10 SLC5A6 Sarah Leigh Added comment: Comment on list classification: Based on five variants in three unrelated cases, together with supportive aminal model studies.
Likely inborn error of metabolism - targeted testing not possible v2.10 SLC5A6 Sarah Leigh Gene: slc5a6 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.9 SLC5A6 Sarah Leigh gene: SLC5A6 was added
gene: SLC5A6 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 27904971; 31392107; 31754459; 23104561; 29669219
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
Review for gene: SLC5A6 was set to GREEN
Added comment: Not associated with phenotype in OMIM and as possible Gen2Phen gene for SLC5A6-related Neurodevelopmental Disorder. At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107).
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.8 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Likely inborn error of metabolism - targeted testing not possible v2.8 QRSL1 Eleanor Williams Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835
Likely inborn error of metabolism - targeted testing not possible v2.7 TANGO2 Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509
Likely inborn error of metabolism - targeted testing not possible v2.6 TANGO2 Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509
Likely inborn error of metabolism - targeted testing not possible v2.6 TANGO2 Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781
Likely inborn error of metabolism - targeted testing not possible v2.4 DDC Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.4 Sarah Leigh Panel version has been signed off
Likely inborn error of metabolism - targeted testing not possible v2.1 PCYT2 Sarah Leigh edited their review of gene: PCYT2: Added comment: Vaz et al. (2019 - PMID: 31637422 - DDD study among the co-authors) report on 5 individuals - from 4 families - with biallelic PCYT2 mutations. The phenotype corresponded to a complex hererditary paraplegia with global DD, regression (4/5), ID (mild in 3/5, severe in 2/5), spastic para-/tetraparesis, epilepsy (5/5 - variable onset 2-16 yrs - focal or tonic-clonic seizures) and progressive cerebral and cerebellar atrophy. Exome sequencing in all revealed biallelic PCYT2 variants, confirmed with Sanger s. in probands and their parents (NM_001184917.2 - corresponding to the canonical transcript used as Ref below): - P1 (Fam1) : 2 missense SNVs in trans configuration, c.730C>T or p.His244Tyr and c.920C>T or p.Pro307Leu - P2 (Fam2 - consanguineous of White British origin), P3 (Fam3 - Consanguineous of Turkish origin), P4,5 (Fam4 - consanguineous, unspecified origin) : homozygosity for c.1129C>T or p.Arg377Ter) affecting the last exon of 8/12 transcripts, including the canonical one. Individuals with the same genotype displayed variable degrees of ID (eg P3 - severe / P2, P4,5 - mild ID). For sibs in Fam4, homozygosity for a missense SACS variant led to consideration of the respective disorder (AR spastic ataxia of Charlevoix-Saguenay) though the variant was predicted to be tolerated in silico and notably the MRI images not suggestive. All variants were absent from / had extremely low AF in public databases, with no homozygotes. Posphatidylethanolamine (PE) is a membrane lipid, particularly enriched in human brain (45% of phospholypid fraction). PE is synthesized either via the CDP-ethanolamine pathway or by decarboxylation of phosphatidylserine in mitochondria. PCYT2 encodes CTP:phosophoethanolamine cytidyltransferase (ET) which is an ubiquitously expressed rate-limiting enzyme for PE biosynthesis in the former pathway. In silico, the 2 missense variants - localizing in the CTP catalytic domain 2 - were predicted to be damaging, as well as to affect protein stability. Fibroblasts of 3 patients (P1, P2, P3) representing all variants were studied: - Enzymatic activity was shown to be significantly reduced (though not absent) compared to controls. Abnormalities were noted upon Western Blot incl. absence in all 3 patients studied of one of the 2 bands normally found in controls (probably representing the longer isoform), reduced intensity in all 3 of another band probably corresponding to a shorter isoform, and presence of an additional band of intermediate molec. mass in patients with the truncating variant. - RT-PCR on mRNA from patient fibroblasts did not reveal (significant) reduction compared to controls. - Lipidomic profile of patient fibroblasts was compatible with the location of the block in the phospholipid biosynthesis pathway and different from controls. The lipidomic profile had similarities with what has been reported for EPT1 deficiency, the enzyme directly downstream of ET. The SELENO1-related phenotype (/EPT1 deficiency) is also highly overlapping. CRISPR-Cas9 was used to generate pcyt2 partial or complete knockout (ko) zebrafish, targeting either the final (ex13) or another exon (ex3) respectively. mRNA expression was shown to be moderately reduced in the first case and severely reduced/absent in the second, compared to wt. Similarly, complete-ko (ex3) led to significantly lower survival, with impaired though somewhat better survival of partial-ko (ex13) zebrafish. Complete knockout of Pcyt2 in mice is embryonically lethal (PMID cited: 17325045) while heterozygous mice develop features of metabolic syndrome (PMID cited: 22764088). Given lethality in knockout zebrafish / mice and the residual activity (15-20%) in patient fibroblasts, the variants reported were thought to be hypomorphic and complete loss of function possibly incompatible with life. PCYT2 is not associated with any phenotype in OMIM/G2P/SysID and not commonly included in gene panels for ID. As a result this gene could included in the ID / epilepsy panels with green (~/>3 indiv/fam/variants with the nonsense found in different populations, consistent phenotype, lipidomics, in silico/in vitro/in vivo evidence) or amber rating. [Please consider inclusion in other possibly relevant panels eg. for metabolic disorders, etc]. Sources: Literature
Konstantinos Varvagiannis (Other), 11 Nov 2019; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.1 PCYT2 Sarah Leigh gene: PCYT2 was added
gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088
Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.0 C19orf70 Louise Daugherty commented on gene: C19orf70
Likely inborn error of metabolism - targeted testing not possible v2.0 C19orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C19orf70.
Likely inborn error of metabolism - targeted testing not possible v2.0 ATP5D Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D.
Likely inborn error of metabolism - targeted testing not possible v2.0 Sarah Leigh promoted panel to version 2.0
Likely inborn error of metabolism - targeted testing not possible v1.426 Sarah Leigh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Likely inborn error of metabolism - targeted testing not possible v1.425 CYCS Sarah Leigh reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.425 PDK3 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
The phenotype of ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905, is not relevant to the "Inborn errors of metabolism" panel, which is why it is rated Amber (clinical opinion of Helen Britain, GEL Clinical Fellow).
Likely inborn error of metabolism - targeted testing not possible v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.423 TMEM199 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Likely inborn error of metabolism - targeted testing not possible v1.423 TMEM199 Ellen McDonagh Mode of inheritance for gene: TMEM199 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.422 UPB1 Ellen McDonagh changed review comment from: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].; to: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443).
Likely inborn error of metabolism - targeted testing not possible v1.422 UPB1 Ellen McDonagh commented on gene: UPB1: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].
Likely inborn error of metabolism - targeted testing not possible v1.422 ALG2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM.
Likely inborn error of metabolism - targeted testing not possible v1.422 ALG2 Ellen McDonagh Mode of inheritance for gene: ALG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.422 TMEM199 Ellen McDonagh Classified gene: TMEM199 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.422 TMEM199 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330).
Likely inborn error of metabolism - targeted testing not possible v1.422 TMEM199 Ellen McDonagh Gene: tmem199 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.421 ALG2 Ellen McDonagh Classified gene: ALG2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.421 ALG2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to feedback from the GMS Metabolic Specialist disease test group. Information provided: 1 patient described with functional studies carried out: Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an ALG2 mutation (PMID: 12684507).
Likely inborn error of metabolism - targeted testing not possible v1.421 ALG2 Ellen McDonagh Gene: alg2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.420 BCAT2 Ellen McDonagh Classified gene: BCAT2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.420 BCAT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable.
Likely inborn error of metabolism - targeted testing not possible v1.420 BCAT2 Ellen McDonagh Gene: bcat2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.419 BCAT2 Ellen McDonagh commented on gene: BCAT2
Likely inborn error of metabolism - targeted testing not possible v1.419 BCAT2 Ellen McDonagh Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.418 BCAT2 Ellen McDonagh Tag treatable tag was added to gene: BCAT2.
Likely inborn error of metabolism - targeted testing not possible v1.418 BCAT2 Ellen McDonagh Publications for gene: BCAT2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.417 UPB1 Ellen McDonagh Classified gene: UPB1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.417 UPB1 Ellen McDonagh Added comment: Comment on list classification: Based on new review by metabolic disease specialist on behalf of the GMS metabolic specialist tets group, and additional publications, this gene has been promoted from Red to Green.
Likely inborn error of metabolism - targeted testing not possible v1.417 UPB1 Ellen McDonagh Gene: upb1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.416 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402
Likely inborn error of metabolism - targeted testing not possible v1.415 UPB1 Ellen McDonagh Publications for gene: UPB1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.414 GLS Ellen McDonagh edited their review of gene: GLS: Changed rating: AMBER
Likely inborn error of metabolism - targeted testing not possible v1.414 GLS Ellen McDonagh changed review comment from: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.; to: Comment on phenotypes: This gene now appears in OMIM with a disease due to new publications.
Likely inborn error of metabolism - targeted testing not possible v1.414 GLS Ellen McDonagh Added comment: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.
Likely inborn error of metabolism - targeted testing not possible v1.414 GLS Ellen McDonagh Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation) to Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412
Likely inborn error of metabolism - targeted testing not possible v1.413 GLS Ellen McDonagh Classified gene: GLS as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.413 GLS Ellen McDonagh Added comment: Comment on list classification: Due to expert review, evidence of 2 unrelated families for loss-of-function variants and further evidence for the role of this gene with an STR reported, this gene has been promoted from Red to Green.
Likely inborn error of metabolism - targeted testing not possible v1.413 GLS Ellen McDonagh Gene: gls has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.412 GLS Ellen McDonagh Mode of inheritance for gene: GLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.411 GLS Ellen McDonagh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Likely inborn error of metabolism - targeted testing not possible v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism - targeted testing not possible v1.411 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome.
Likely inborn error of metabolism - targeted testing not possible v1.411 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism - targeted testing not possible v1.410 GLS Ellen McDonagh Added comment: Comment on publications: PMID: 30970188 - short tandem repeat (STR) reported in this gene to cause an inborn error of metabolism.
Likely inborn error of metabolism - targeted testing not possible v1.410 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182
Likely inborn error of metabolism - targeted testing not possible v1.409 GLS Ellen McDonagh Publications for gene: GLS were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.407 UQCC2 Catherine Snow Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.406 YME1L1 Catherine Snow commented on gene: YME1L1
Likely inborn error of metabolism - targeted testing not possible v1.406 TMEM65 Catherine Snow commented on gene: TMEM65
Likely inborn error of metabolism - targeted testing not possible v1.406 TIMMDC1 Catherine Snow commented on gene: TIMMDC1
Likely inborn error of metabolism - targeted testing not possible v1.406 TFAM Catherine Snow commented on gene: TFAM
Likely inborn error of metabolism - targeted testing not possible v1.406 SSBP1 Catherine Snow commented on gene: SSBP1
Likely inborn error of metabolism - targeted testing not possible v1.406 SLC25A32 Catherine Snow commented on gene: SLC25A32: Treatable tag was added based on reports in PMID: 26933868 and 28443623, that riboflavin treatment was effective.
Likely inborn error of metabolism - targeted testing not possible v1.406 SLC25A32 Catherine Snow commented on gene: SLC25A32
Likely inborn error of metabolism - targeted testing not possible v1.406 PTCD3 Catherine Snow commented on gene: PTCD3
Likely inborn error of metabolism - targeted testing not possible v1.406 PET117 Catherine Snow commented on gene: PET117
Likely inborn error of metabolism - targeted testing not possible v1.406 NSUN3 Catherine Snow changed review comment from: PMID: 27356879 - reports on a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.; to: PMID: 27356879 - reports on a compound heterozygous variant resulting in a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.
Likely inborn error of metabolism - targeted testing not possible v1.406 NSUN3 Catherine Snow commented on gene: NSUN3
Likely inborn error of metabolism - targeted testing not possible v1.406 MSTO1 Catherine Snow commented on gene: MSTO1
Likely inborn error of metabolism - targeted testing not possible v1.406 MRPS14 Catherine Snow commented on gene: MRPS14
Likely inborn error of metabolism - targeted testing not possible v1.406 MRM2 Catherine Snow changed review comment from: One proband identified in PMID: 28973171, OMIM currently based on this.; to: One proband identified in PMID: 28973171, OMIM entry currently based on this.
Likely inborn error of metabolism - targeted testing not possible v1.406 MRM2 Catherine Snow commented on gene: MRM2
Likely inborn error of metabolism - targeted testing not possible v1.406 ERAL1 Catherine Snow commented on gene: ERAL1
Likely inborn error of metabolism - targeted testing not possible v1.406 YME1L1 Catherine Snow gene: YME1L1 was added
gene: YME1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 27495975
Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302
Likely inborn error of metabolism - targeted testing not possible v1.406 TMEM65 Catherine Snow gene: TMEM65 was added
gene: TMEM65 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy
Likely inborn error of metabolism - targeted testing not possible v1.406 TIMMDC1 Catherine Snow gene: TIMMDC1 was added
gene: TIMMDC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Likely inborn error of metabolism - targeted testing not possible v1.406 TFAM Catherine Snow gene: TFAM was added
gene: TFAM was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Likely inborn error of metabolism - targeted testing not possible v1.406 SSBP1 Catherine Snow gene: SSBP1 was added
gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SSBP1 were set to 31298765
Likely inborn error of metabolism - targeted testing not possible v1.406 SLC25A32 Catherine Snow gene: SLC25A32 was added
gene: SLC25A32 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive
Likely inborn error of metabolism - targeted testing not possible v1.406 PTCD3 Catherine Snow gene: PTCD3 was added
gene: PTCD3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 30706245
Phenotypes for gene: PTCD3 were set to low birth weight, mental retardation, and optic atrophy
Likely inborn error of metabolism - targeted testing not possible v1.406 PET117 Catherine Snow gene: PET117 was added
gene: PET117 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to lesions in the medulla oblongata
Likely inborn error of metabolism - targeted testing not possible v1.406 NSUN3 Catherine Snow gene: NSUN3 was added
gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to Combined mitochondrial respiratory chain complex deficiency
Likely inborn error of metabolism - targeted testing not possible v1.406 MSTO1 Catherine Snow gene: MSTO1 was added
gene: MSTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675
Likely inborn error of metabolism - targeted testing not possible v1.406 MRPS14 Catherine Snow gene: MRPS14 was added
gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, 618378
Likely inborn error of metabolism - targeted testing not possible v1.406 MRM2 Catherine Snow gene: MRM2 was added
gene: MRM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to ?Mitochondrial DNA depletion syndrome 17, 618567
Likely inborn error of metabolism - targeted testing not possible v1.406 ERAL1 Catherine Snow gene: ERAL1 was added
gene: ERAL1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.404 COASY Catherine Snow gene: COASY was added
gene: COASY was added to Inborn errors of metabolism. Sources: Expert list
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266
Review for gene: COASY was set to AMBER
Added comment: COASY has sufficient evidence to be made Green however as it has been purposefully not rated by experts as Green on Mitochondrial Panels COASY will be rated as Amber.
Sources: Expert list
Likely inborn error of metabolism - targeted testing not possible v1.403 MRPS7 Catherine Snow Publications for gene: MRPS7 were set to
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.402 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Classified gene: MRPS7 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Classified gene: MRPS7 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.401 MRPS7 Catherine Snow Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.400 UQCC3 Catherine Snow Publications for gene: UQCC3 were set to
Likely inborn error of metabolism - targeted testing not possible v1.400 UQCC3 Catherine Snow changed review comment from: Comment on list classification: Promoting to Amber as some evidence is avaliable; to: Comment on list classification: Promoting to Amber as some evidence is available
Likely inborn error of metabolism - targeted testing not possible v1.400 UQCC3 Catherine Snow Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.399 UQCC3 Catherine Snow Classified gene: UQCC3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.399 UQCC3 Catherine Snow Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.399 UQCC3 Catherine Snow Classified gene: UQCC3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.399 UQCC3 Catherine Snow Added comment: Comment on list classification: Promoting to Amber as some evidence is avaliable
Likely inborn error of metabolism - targeted testing not possible v1.399 UQCC3 Catherine Snow Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.398 UQCC2 Catherine Snow Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.398 UQCC2 Catherine Snow Classified gene: UQCC2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.398 UQCC2 Catherine Snow Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Likely inborn error of metabolism - targeted testing not possible v1.398 UQCC2 Catherine Snow Gene: uqcc2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.397 UQCC2 Catherine Snow Publications for gene: UQCC2 were set to
Likely inborn error of metabolism - targeted testing not possible v1.397 UQCC2 Catherine Snow Classified gene: UQCC2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.397 UQCC2 Catherine Snow Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Likely inborn error of metabolism - targeted testing not possible v1.397 UQCC2 Catherine Snow Gene: uqcc2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.396 UQCC2 Catherine Snow Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.396 SLC25A4 Catherine Snow Added comment: Comment on mode of inheritance: The MOI was changed for consistency between panels Mitochondrial DNA maintenance disorder (code: 533) and Possible mitochondrial disorder - nuclear genes (code: 539).
Likely inborn error of metabolism - targeted testing not possible v1.396 SLC25A4 Catherine Snow Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Added comment: Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM.
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Added comment: Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM.
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.393 Ellen McDonagh List of related panels changed from Likely inborn error of metabolism - targeted testing not possible to Likely inborn error of metabolism - targeted testing not possible; Likely inborn error of metabolism; R98
Likely inborn error of metabolism - targeted testing not possible v1.392 DNM2 Catherine Snow Mode of inheritance for gene: DNM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.391 SETX Catherine Snow Classified gene: SETX as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.391 SETX Catherine Snow Gene: setx has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.390 SETX Catherine Snow reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile, 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.390 SKIV2L Catherine Snow Classified gene: SKIV2L as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.390 SKIV2L Catherine Snow Gene: skiv2l has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.389 SKIV2L Catherine Snow reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 30397475; Phenotypes: Trichohepatoenteric syndrome 2, 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.389 SLC12A3 Catherine Snow Classified gene: SLC12A3 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.389 SLC12A3 Catherine Snow Gene: slc12a3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.388 SLC12A3 Catherine Snow Classified gene: SLC12A3 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.388 SLC12A3 Catherine Snow Gene: slc12a3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.387 SLC12A3 Catherine Snow reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22009145; Phenotypes: Gitelman syndrome, 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.387 SLC18A2 Catherine Snow Classified gene: SLC18A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.387 SLC18A2 Catherine Snow Gene: slc18a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.387 SLC18A2 Catherine Snow Classified gene: SLC18A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.387 SLC18A2 Catherine Snow Gene: slc18a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC18A2 Catherine Snow reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240161, 23363473, 26497564, 28716265; Phenotypes: ?Parkinsonism-dystonia, infantile, 2, 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.386 SLC35A2 Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.385 SLC35A2 Catherine Snow reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30746764; Phenotypes: Congenital disorder of glycosylation, type IIm, 300896; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.385 SLC3A1 Catherine Snow Classified gene: SLC3A1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.385 SLC3A1 Catherine Snow Gene: slc3a1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.384 SLC3A1 Catherine Snow reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12239244; Phenotypes: Cystinuria, 220100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.384 SLC6A3 Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC7A9 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC6A3 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.384 SLC6A3 Catherine Snow Classified gene: SLC6A3 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.384 SLC6A3 Catherine Snow Gene: slc6a3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.383 SLC6A3 Catherine Snow edited their review of gene: SLC6A3: Changed publications: 21112253; Changed phenotypes: Parkinsonism-dystonia, infantile, 1, 613135
Likely inborn error of metabolism - targeted testing not possible v1.383 SLC6A3 Catherine Snow reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.383 RNASET2 Ivone Leong reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.383 SDHC Ivone Leong changed review comment from: his gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.
Likely inborn error of metabolism - targeted testing not possible v1.383 RBP4 Ivone Leong Classified gene: RBP4 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.383 RBP4 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. RBP4 is associated with retinoid metabolism on OMIM, but not on Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.383 RBP4 Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.382 SLC6A8 Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Comment on list classification: Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.382 SLC6A8 Catherine Snow Classified gene: SLC6A8 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.382 SLC6A8 Catherine Snow Gene: slc6a8 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.381 SLC6A8 Catherine Snow reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21660517; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.381 SLC7A9 Catherine Snow Classified gene: SLC7A9 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.381 SLC7A9 Catherine Snow Gene: slc7a9 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.380 SLC7A9 Catherine Snow Publications for gene: SLC7A9 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v1.379 SLC7A9 Catherine Snow reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 12239244; Phenotypes: Cystinuria, 220100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.379 UQCRC2 Catherine Snow Classified gene: UQCRC2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.379 UQCRC2 Catherine Snow Added comment: Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.
Likely inborn error of metabolism - targeted testing not possible v1.379 UQCRC2 Catherine Snow Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.378 UQCRC2 Catherine Snow Publications for gene: UQCRC2 were set to
Likely inborn error of metabolism - targeted testing not possible v1.377 NNT Catherine Snow Publications for gene: NNT were set to
Likely inborn error of metabolism - targeted testing not possible v1.376 NNT Catherine Snow reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.376 NNT Catherine Snow Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Likely inborn error of metabolism - targeted testing not possible v1.375 NNT Catherine Snow Classified gene: NNT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.375 NNT Catherine Snow Gene: nnt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.375 NNT Catherine Snow Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.374 UQCC3 Catherine Snow commented on gene: UQCC3
Likely inborn error of metabolism - targeted testing not possible v1.374 UQCC2 Catherine Snow commented on gene: UQCC2
Likely inborn error of metabolism - targeted testing not possible v1.374 TXN2 Catherine Snow commented on gene: TXN2
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.376 TRAP1 Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Likely inborn error of metabolism - targeted testing not possible v1.375 TRAP1 Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Likely inborn error of metabolism - targeted testing not possible v1.375 TRAP1 Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Likely inborn error of metabolism - targeted testing not possible v1.375 TRAP1 Catherine Snow Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.375 TRAP1 Catherine Snow Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Likely inborn error of metabolism - targeted testing not possible v1.375 TRAP1 Catherine Snow Phenotypes for gene: TRAP1 were changed from to VACTERL; CAKUT
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Classified gene: TRAP1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Gene: trap1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Classified gene: TRAP1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.374 TRAP1 Catherine Snow Gene: trap1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.373 TRAP1 Catherine Snow reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: VACTERL, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.373 OGDH Catherine Snow reviewed gene: OGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-ketoglutarate dehydrogenase deficiency, 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.373 NFS1 Catherine Snow edited their review of gene: NFS1: Changed rating: RED
Likely inborn error of metabolism - targeted testing not possible v1.373 NFS1 Catherine Snow commented on gene: NFS1
Likely inborn error of metabolism - targeted testing not possible v1.373 NDUFA13 Catherine Snow reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.373 NDUFA13 Catherine Snow Publications for gene: NDUFA13 were set to
Likely inborn error of metabolism - targeted testing not possible v1.372 MRPS7 Catherine Snow reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.372 MRPS23 Catherine Snow reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.372 LYRM4 Catherine Snow commented on gene: LYRM4
Likely inborn error of metabolism - targeted testing not possible v1.372 LYRM4 Catherine Snow Classified gene: LYRM4 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.372 LYRM4 Catherine Snow Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.372 LYRM4 Catherine Snow Classified gene: LYRM4 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.372 LYRM4 Catherine Snow Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.371 LYRM4 Catherine Snow Mode of inheritance for gene: LYRM4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.370 LYRM4 Catherine Snow Publications for gene: LYRM4 were set to
Likely inborn error of metabolism - targeted testing not possible v1.370 LYRM4 Catherine Snow Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.369 LARS Catherine Snow Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1, 615438 to ?Infantile liver failure syndrome 1, 615438
Likely inborn error of metabolism - targeted testing not possible v1.368 LARS Catherine Snow Publications for gene: LARS were set to 28774368; 30349989; 22607940
Likely inborn error of metabolism - targeted testing not possible v1.368 LARS Catherine Snow Phenotypes for gene: LARS were changed from to ?Infantile liver failure syndrome 1, 615438
Likely inborn error of metabolism - targeted testing not possible v1.367 LARS Catherine Snow Publications for gene: LARS were set to
Likely inborn error of metabolism - targeted testing not possible v1.367 LARS Catherine Snow Mode of inheritance for gene: LARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.367 LARS Catherine Snow Classified gene: LARS as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.367 LARS Catherine Snow Gene: lars has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.366 LARS Catherine Snow reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.366 TTC37 Catherine Snow Classified gene: TTC37 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.366 TTC37 Catherine Snow Gene: ttc37 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.365 TTC37 Catherine Snow Publications for gene: TTC37 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.364 TTC37 Catherine Snow reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 25976726, 28292286, 31132033; Phenotypes: Trichohepatoenteric syndrome 1, 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.364 ST3GAL3 Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Likely inborn error of metabolism - targeted testing not possible v1.364 ST3GAL3 Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Likely inborn error of metabolism - targeted testing not possible v1.363 ST3GAL3 Catherine Snow Publications for gene: ST3GAL3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.363 ST3GAL3 Catherine Snow Classified gene: ST3GAL3 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.363 ST3GAL3 Catherine Snow Gene: st3gal3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.362 ST3GAL3 Catherine Snow reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907012, 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15, 615006: Mental retardation, autosomal recessive 12, 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.362 TH Catherine Snow Tag treatable tag was added to gene: TH.
Likely inborn error of metabolism - targeted testing not possible v1.362 TREX1 Catherine Snow edited their review of gene: TREX1: Changed phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Likely inborn error of metabolism - targeted testing not possible v1.362 WFS1 Catherine Snow edited their review of gene: WFS1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.362 WFS1 Catherine Snow Publications for gene: WFS1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.361 WFS1 Catherine Snow Classified gene: WFS1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.361 WFS1 Catherine Snow Gene: wfs1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.360 WFS1 Catherine Snow reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30171196; Phenotypes: Wolfram syndrome 1, 222300, Wolfram-like syndrome, autosomal dominant, 614296, Diabetes mellitus, noninsulin-dependent, association with, 125853; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.360 VKORC1 Catherine Snow Classified gene: VKORC1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.360 VKORC1 Catherine Snow Gene: vkorc1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.359 VKORC1 Catherine Snow reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473, Warfarin resistance, 122700; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.359 VIPAS39 Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. VIPAS39 is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. VIPAS39 is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >23 cases in literature. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.359 VIPAS39 Catherine Snow Publications for gene: VIPAS39 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.358 VIPAS39 Catherine Snow Classified gene: VIPAS39 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.358 VIPAS39 Catherine Snow Gene: vipas39 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.357 VIPAS39 Catherine Snow reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 22753090, 26808426; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.357 VPS33B Catherine Snow Classified gene: VPS33B as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.357 VPS33B Catherine Snow Gene: vps33b has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.356 VPS33B Catherine Snow Classified gene: VPS33B as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.356 VPS33B Catherine Snow Gene: vps33b has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.356 VPS33B Catherine Snow Classified gene: VPS33B as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.356 VPS33B Catherine Snow Gene: vps33b has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.356 VPS33B Catherine Snow Publications for gene: VPS33B were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.355 VPS33B Catherine Snow reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.355 UROC1 Catherine Snow Publications for gene: UROC1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.354 UROC1 Catherine Snow reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: ?Urocanase deficiency, 276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.354 UQCRB Catherine Snow commented on gene: UQCRB
Likely inborn error of metabolism - targeted testing not possible v1.354 UMOD Catherine Snow Publications for gene: UMOD were set to 27604308; 31422399; 29180396
Likely inborn error of metabolism - targeted testing not possible v1.354 UMOD Catherine Snow Publications for gene: UMOD were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.354 UMOD Catherine Snow Classified gene: UMOD as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.354 UMOD Catherine Snow Gene: umod has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.353 UMOD Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. UMOD is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. UMOD is associated with an appropriate phenotype on OMIM but not in Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.353 UMOD Catherine Snow reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31422399, 29180396; Phenotypes: Hyperuricemic nephropathy, familial juvenile 1, 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v1.353 TUFM Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.353 TUFM Catherine Snow reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Classified gene: TTPA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Gene: ttpa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Classified gene: TTPA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Gene: ttpa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Classified gene: TTPA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.353 TTPA Catherine Snow Gene: ttpa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.352 TTPA Catherine Snow Publications for gene: TTPA were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.352 TTPA Catherine Snow Classified gene: TTPA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.352 TTPA Catherine Snow Gene: ttpa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.351 TTPA Catherine Snow reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26981194; Phenotypes: Ataxia with isolated vitamin E deficiency, 277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.351 TREX1 Catherine Snow Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.351 TREX1 Catherine Snow Added comment: Comment on phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive TREX1 deficiency leads to the intracellular accumulation of DNA, and activation of the immune system by these accumulated NA.
Likely inborn error of metabolism - targeted testing not possible v1.351 TREX1 Catherine Snow Phenotypes for gene: TREX1 were changed from Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders 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 v1.350 TREX1 Catherine Snow Classified gene: TREX1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.350 TREX1 Catherine Snow Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype
Likely inborn error of metabolism - targeted testing not possible v1.350 TREX1 Catherine Snow Gene: trex1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.349 TREX1 Catherine Snow Publications for gene: TREX1 were set to 27604308; 12624136; 25604658
Likely inborn error of metabolism - targeted testing not possible v1.349 TREX1 Catherine Snow Publications for gene: TREX1 were set to 27604308; 12624136; 25604658
Likely inborn error of metabolism - targeted testing not possible v1.349 TREX1 Catherine Snow Publications for gene: TREX1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.348 TREX1 Catherine Snow reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12624136, 25604658; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.348 TH Catherine Snow Publications for gene: TH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.347 TH Catherine Snow Classified gene: TH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.347 TH Catherine Snow Gene: th has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.346 TH Catherine Snow reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753243; Phenotypes: Segawa syndrome, recessive, 605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.346 TCN2 Catherine Snow Added comment: Comment on publications: There are >3 unrelated cases reported in the literature.
Likely inborn error of metabolism - targeted testing not possible v1.346 TCN2 Catherine Snow Publications for gene: TCN2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.346 TCN2 Catherine Snow Classified gene: TCN2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.346 TCN2 Catherine Snow Gene: tcn2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.345 TCN2 Catherine Snow reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259; Phenotypes: Transcobalamin II deficiency, 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.345 TAT Catherine Snow Added comment: Comment on publications: PMID: 28255985 Reports on 106 families, represented by 143 individuals, carrying a total of 36 genetic variants. Variants include large deletions, non‐synonymous and nonsense amino‐acid changes, frameshifts and
splice variants.
Likely inborn error of metabolism - targeted testing not possible v1.345 TAT Catherine Snow Publications for gene: TAT were set to 27604308; 28255985
Likely inborn error of metabolism - targeted testing not possible v1.344 TAT Catherine Snow Publications for gene: TAT were set to 27604308; 28255985
Likely inborn error of metabolism - targeted testing not possible v1.344 TAT Catherine Snow Publications for gene: TAT were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.343 TAT Catherine Snow Classified gene: TAT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.343 TAT Catherine Snow Gene: tat has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.342 TAT Catherine Snow reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.342 STS Catherine Snow Publications for gene: STS were set to 27604308; 1539590; 29672931
Likely inborn error of metabolism - targeted testing not possible v1.341 STS Catherine Snow Publications for gene: STS were set to 27604308; 1539590; 29672931
Likely inborn error of metabolism - targeted testing not possible v1.341 STS Catherine Snow Publications for gene: STS were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.340 STS Catherine Snow Classified gene: STS as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.340 STS Catherine Snow Gene: sts has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.339 STS Catherine Snow edited their review of gene: STS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.339 STS Catherine Snow reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: 1539590, 29672931; Phenotypes: Ichthyosis, X-linked, 308100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.339 PIGM Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.339 ISCA2 Sarah Leigh Classified gene: ISCA2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.339 ISCA2 Sarah Leigh Gene: isca2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.338 ISCA2 Sarah Leigh Added comment: Comment on phenotypes: infantile neurodegenerative mitochondrial disorder
Likely inborn error of metabolism - targeted testing not possible v1.338 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4 616370 to Multiple mitochondrial dysfunctions syndrome 4 616370
Likely inborn error of metabolism - targeted testing not possible v1.337 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to 25539947; 29359243; 29122497
Likely inborn error of metabolism - targeted testing not possible v1.336 ISCA2 Sarah Leigh Classified gene: ISCA2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.336 ISCA2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two different ethinicities.
Rated green based on review of Anna de Burca (Clinical Fellow, Genomic England).
Likely inborn error of metabolism - targeted testing not possible v1.336 ISCA2 Sarah Leigh Gene: isca2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.335 ISCA2 Sarah Leigh Added comment: Comment on phenotypes: infantile neurodegenerative mitochondrial disorder
Likely inborn error of metabolism - targeted testing not possible v1.335 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from infantile neurodegenerative mitochondrial disorder to Multiple mitochondrial dysfunctions syndrome 4 616370
Likely inborn error of metabolism - targeted testing not possible v1.334 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to PMID: 25539947
Likely inborn error of metabolism - targeted testing not possible v1.333 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 18560793; 17932957; 17636067; 17008356; 16227997; 15731758
Likely inborn error of metabolism - targeted testing not possible v1.332 DNM2 Sarah Leigh Added comment: Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism - targeted testing not possible v1.332 DNM2 Sarah Leigh Phenotypes for gene: DNM2 were changed from Disorders of mitochondrial DNA maintenance and integrity to Centronuclear myopathy 1 160150; Charcot-Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482
Likely inborn error of metabolism - targeted testing not possible v1.331 SLC2A1 Ivone Leong Classified gene: SLC2A1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.331 SLC2A1 Ivone Leong Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC2A1 is associated with GLUT1 deficiency syndrome 1 and GLUT1 deficiency syndrome 2 on OMIM and Gene2Phenotype. There are >3 unrelated cases reported on OMIM. Therefore, there is enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.331 SLC2A1 Ivone Leong Gene: slc2a1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.330 HSPA9 Sarah Leigh Added comment: Comment on phenotypes: EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings.
Monoallelic variants reported in Anemia, sideroblastic, 4 182170.
Likely inborn error of metabolism - targeted testing not possible v1.330 HSPA9 Sarah Leigh Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome 616854
Likely inborn error of metabolism - targeted testing not possible v1.329 HSPA9 Sarah Leigh Classified gene: HSPA9 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.329 HSPA9 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.329 HSPA9 Sarah Leigh Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.328 FDX2 Sarah Leigh Classified gene: FDX2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.328 FDX2 Sarah Leigh Added comment: Comment on list classification: Based on reviews from Carl Fratter and Zornitza Stark.
Likely inborn error of metabolism - targeted testing not possible v1.328 FDX2 Sarah Leigh Gene: fdx2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.327 FDX2 Sarah Leigh Phenotypes for gene: FDX2 were changed from No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900
Likely inborn error of metabolism - targeted testing not possible v1.326 FDX2 Sarah Leigh Publications for gene: FDX2 were set to
Likely inborn error of metabolism - targeted testing not possible v1.325 FDX2 Sarah Leigh Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.324 DNM2 Sarah Leigh Publications for gene: DNM2 were set to
Likely inborn error of metabolism - targeted testing not possible v1.323 COX8A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency.
No further variants reported to date (30/09/2019).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. The proband died from cardiorespiratory failure associated with infection and metabolic crisis at 12.5 years. No further variants reported to date (30/09/2019).
Likely inborn error of metabolism - targeted testing not possible v1.323 COX8A Sarah Leigh Classified gene: COX8A as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.323 COX8A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency.
No further variants reported to date (30/09/2019).
Likely inborn error of metabolism - targeted testing not possible v1.323 COX8A Sarah Leigh Gene: cox8a has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.322 COX8A Sarah Leigh Added comment: Comment on phenotypes: Leigh-like syndrome and epilepsy
Likely inborn error of metabolism - targeted testing not possible v1.322 COX8A Sarah Leigh Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110
Likely inborn error of metabolism - targeted testing not possible v1.321 COQ7 Sarah Leigh Classified gene: COQ7 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.321 COQ7 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.321 COQ7 Sarah Leigh Gene: coq7 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.320 COQ7 Sarah Leigh Added comment: Comment on phenotypes: complex multisystem presentation;primary coenzyme Q10 deficiency
Likely inborn error of metabolism - targeted testing not possible v1.320 COQ7 Sarah Leigh Phenotypes for gene: COQ7 were changed from complex multisystem presentation; primary coenzyme Q10 deficiency to ?Coenzyme Q10 deficiency, primary, 8 616733
Likely inborn error of metabolism - targeted testing not possible v1.319 COQ7 Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283
Likely inborn error of metabolism - targeted testing not possible v1.318 MT-CO3 Louise Daugherty Phenotypes for gene: MT-CO3 were changed from to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY
Likely inborn error of metabolism - targeted testing not possible v1.317 CEP89 Sarah Leigh reviewed gene: CEP89: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.317 MT-CO3 Louise Daugherty 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 v1.316 TMEM126A Sarah Leigh Added comment: Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v1.316 TMEM126A Sarah Leigh Phenotypes for gene: TMEM126A were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy-7, 612989; Optic atrophy 7; 612989 to Optic atrophy 7 612989
Likely inborn error of metabolism - targeted testing not possible v1.315 TMEM126A Sarah Leigh Classified gene: TMEM126A as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.315 TMEM126A Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with the phenotype Optic atrophy 7 612989 in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases. The red rating is based on Helen Britain's opinion that, the phenotype of Optic atrophy 7 612989 will not present via a metabolic team. TMEM126A is green on the Optic neuropathy panel
Likely inborn error of metabolism - targeted testing not possible v1.315 TMEM126A Sarah Leigh Gene: tmem126a has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.314 TMEM126A Sarah Leigh Publications for gene: TMEM126A were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Classified gene: PDK3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Gene: pdk3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.312 PDK3 Sarah Leigh Added comment: Comment on mode of pathogenicity: A gain of function mechanism has been reported for the p.R158H variant, resulting in a more activity than the wild-type kinase (PMID: 23297365).
Likely inborn error of metabolism - targeted testing not possible v1.312 PDK3 Sarah Leigh Mode of pathogenicity for gene: PDK3 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 v1.311 PDK1 Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.
Likely inborn error of metabolism - targeted testing not possible v1.311 NDUFA12 Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 MRPS16 Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 COX4I2 Sarah Leigh changed review comment from: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).
Likely inborn error of metabolism - targeted testing not possible v1.311 COA5 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and as a possible G2P. At least 1 variant reported.
Likely inborn error of metabolism - targeted testing not possible v1.311 COA5 Sarah Leigh changed review comment from: Comment on list classification: No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date.
Likely inborn error of metabolism - targeted testing not possible v1.311 ATP5E Sarah Leigh changed review comment from: Comment on list classification: Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 ATP5A1 Sarah Leigh changed review comment from: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys mentioned in this article have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism - targeted testing not possible v1.311 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308; 26801680; 28902413
Likely inborn error of metabolism - targeted testing not possible v1.310 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.309 PDK3 Sarah Leigh Added comment: Comment on phenotypes: Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.309 PDK3 Sarah Leigh Phenotypes for gene: PDK3 were changed from ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) to ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905
Likely inborn error of metabolism - targeted testing not possible v1.308 PDK1 Sarah Leigh Classified gene: PDK1 as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.308 PDK1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.
Likely inborn error of metabolism - targeted testing not possible v1.308 PDK1 Sarah Leigh Gene: pdk1 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.307 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.306 NDUFA12 Sarah Leigh Added comment: Comment on phenotypes: Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v1.306 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from Leigh syndrome due to mitochondrial complex 1 deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Isolated complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 23 618244
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.305 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.304 MRPS16 Sarah Leigh Classified gene: MRPS16 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.304 MRPS16 Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.304 MRPS16 Sarah Leigh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.303 MRPS16 Sarah Leigh Added comment: Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Likely inborn error of metabolism - targeted testing not possible v1.303 MRPS16 Sarah Leigh Phenotypes for gene: MRPS16 were changed from Combined oxidative phosphorylation deficiency 2, 610498; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 2 610498
Likely inborn error of metabolism - targeted testing not possible v1.302 MRPS16 Sarah Leigh Publications for gene: MRPS16 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.301 COX4I2 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v1.301 COX4I2 Sarah Leigh Phenotypes for gene: COX4I2 were changed from Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mitochondrial Diseases; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Likely inborn error of metabolism - targeted testing not possible v1.300 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 27604308; 19268275; 22592081
Likely inborn error of metabolism - targeted testing not possible v1.299 COX4I2 Sarah Leigh Classified gene: COX4I2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.299 COX4I2 Sarah Leigh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).
Likely inborn error of metabolism - targeted testing not possible v1.299 COX4I2 Sarah Leigh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.298 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.297 COA5 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.297 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Likely inborn error of metabolism - targeted testing not possible v1.296 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; 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 v1.296 COA5 Sarah Leigh Added comment: Comment on phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Likely inborn error of metabolism - targeted testing not possible v1.296 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; 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 v1.295 COA5 Sarah Leigh Publications for gene: COA5 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.294 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Likely inborn error of metabolism - targeted testing not possible v1.293 ATP5E Sarah Leigh Added comment: Comment on phenotypes: Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v1.293 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Likely inborn error of metabolism - targeted testing not possible v1.292 ATP5E Sarah Leigh Added comment: Comment on publications: pmid 27626380: knockout of the mouse homolog of human ATP5E is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning).
Likely inborn error of metabolism - targeted testing not possible v1.292 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Likely inborn error of metabolism - targeted testing not possible v1.291 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Likely inborn error of metabolism - targeted testing not possible v1.290 ATP5E Sarah Leigh Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.290 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710
Likely inborn error of metabolism - targeted testing not possible v1.289 ATP5E Sarah Leigh Classified gene: ATP5E as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.289 ATP5E Sarah Leigh Added comment: Comment on list classification: Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.289 ATP5E Sarah Leigh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.288 ATP5E Sarah Leigh Publications for gene: ATP5E were set to PMID: 20566710
Likely inborn error of metabolism - targeted testing not possible v1.287 STAT2 Sarah Leigh Classified gene: STAT2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.287 STAT2 Sarah Leigh Added comment: Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that the majority of cases will be presenting in the context of overwhelming infection. The raised lactate and encephalomyopathy are potentially relevant phenotypes for this panel, however more evidence is needed on how common this presentation is, and whether it is always clearly associated with a proven infection.
Likely inborn error of metabolism - targeted testing not possible v1.287 STAT2 Sarah Leigh Gene: stat2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow changed review comment from: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association.

SPTLC1, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites.

Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications.; to: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association.

SPTLC1, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites.

Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow Classified gene: SPTLC1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.286 SPTLC1 Catherine Snow Gene: sptlc1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.285 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.285 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.284 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Likely inborn error of metabolism - targeted testing not possible v1.284 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.283 SPTLC1 Catherine Snow reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20097765, 21618344, 20097765, 30420926; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v1.283 SPTLC2 Catherine Snow Classified gene: SPTLC2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.283 SPTLC2 Catherine Snow Gene: sptlc2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.282 SPTLC2 Catherine Snow Publications for gene: SPTLC2 were set to 27604308; 20920666
Likely inborn error of metabolism - targeted testing not possible v1.282 SPTLC2 Catherine Snow Publications for gene: SPTLC2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.281 SPTLC2 Catherine Snow changed review comment from: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.
SPTLC2, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID: 20920666 reports on three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families and also confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/).
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

SPTLC2, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID: 20920666 reports on three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families and also confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/).

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.281 SPTLC2 Catherine Snow reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920666; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v1.281 SPR Catherine Snow Tag treatable tag was added to gene: SPR.
Likely inborn error of metabolism - targeted testing not possible v1.281 SPR Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Likely inborn error of metabolism - targeted testing not possible v1.281 SPR Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Likely inborn error of metabolism - targeted testing not possible v1.281 SPR Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784
Likely inborn error of metabolism - targeted testing not possible v1.280 SPR Catherine Snow Publications for gene: SPR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.280 SPR Catherine Snow Classified gene: SPR as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.280 SPR Catherine Snow Gene: spr has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.279 SPR Catherine Snow reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22018912, 22522443, 22018912, 24588500, 28189489, 21431957, 16650784; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.279 DNM2 Sarah Leigh Classified gene: DNM2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.279 DNM2 Sarah Leigh Gene: dnm2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.279 DNM2 Sarah Leigh Classified gene: DNM2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.279 DNM2 Sarah Leigh Gene: dnm2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.278 DNM2 Sarah Leigh edited their review of gene: DNM2: Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions. Thus in the opinion of Helen Britain (Genomics England Clinical Fellow) the phenotypes reported could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh edited their review of gene: IER3IP1: Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v1.278 IER3IP1 Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.
Likely inborn error of metabolism - targeted testing not possible v1.278 SLC2A1 Ivone Leong Phenotypes for gene: SLC2A1 were changed from 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 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; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126
Likely inborn error of metabolism - targeted testing not possible v1.277 SLC25A12 Ivone Leong commented on gene: SLC25A12
Likely inborn error of metabolism - targeted testing not possible v1.277 SDHC Ivone Leong reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.277 SDHAF2 Ivone Leong edited their review of gene: SDHAF2: Added comment: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

This gene is present as an Amber gene on the Mitochondrial disorder with complex II deficiency (v 1.0) and Possible mitochondrial disorder - nuclear genes (v 1.12). Both GMS panels have been signed off by the GMS Metabolic Consensus Specialist Test Group. Therefore, this gene will remain Amber until further evidence is available.; Changed rating: AMBER
Likely inborn error of metabolism - targeted testing not possible v1.277 SC5D Ivone Leong Classified gene: SC5D as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.277 SC5D Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.277 SC5D Ivone Leong Gene: sc5d has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.276 SC5D Ivone Leong Added comment: Comment on publications: There are >3 unrelated cases and an animal model.
Likely inborn error of metabolism - targeted testing not possible v1.276 SC5D Ivone Leong Publications for gene: SC5D were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.275 SC5D Ivone Leong Phenotypes for gene: SC5D were changed from Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts to Lathosterolosis, 607330; Intellectual disability; Cataracts
Likely inborn error of metabolism - targeted testing not possible v1.274 RNASEH2C Ivone Leong Classified gene: RNASEH2C as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.274 RNASEH2C Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2C is associated with Aicardi-Goutieres syndrome 3 on OMIM and Gene2Phenotype. There are 2 unrelated cases from the same geographical region on OMIM about RNASEH2C causing Aicardi-Goutieres syndrome; however, RNASEH2C does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.274 RNASEH2C Ivone Leong Gene: rnaseh2c has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM about RNASEH2B causing Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Classified gene: RNASEH2B as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong Gene: rnaseh2b has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.272 RNASEH2A Ivone Leong Classified gene: RNASEH2A as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.272 RNASEH2A Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.271 RNASEH2A Ivone Leong changed review comment from: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.; to: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. There are >3 unrelated cases on OMIM supporting the gene-disease link between RNASEH2A with Aicardi-Goutieres syndrome; however, RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.
Likely inborn error of metabolism - targeted testing not possible v1.271 RNASEH2A Ivone Leong commented on gene: RNASEH2A: RNASEH2A is associated with Aicardi-Goutieres syndrome 4 on OMIM and Gene2Phenotype. RNASEH2A does not appear to be associated with a metabolic phenotype. Therefore this gene will remain Amber.
Likely inborn error of metabolism - targeted testing not possible v1.271 RNASEH2A Ivone Leong commented on gene: RNASEH2A
Likely inborn error of metabolism - targeted testing not possible v1.271 COA6 Sarah Leigh Classified gene: COA6 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.271 COA6 Sarah Leigh Gene: coa6 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.270 PEX5 Sarah Leigh Added comment: Comment on phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716
Likely inborn error of metabolism - targeted testing not possible v1.270 PEX5 Sarah Leigh Phenotypes for gene: PEX5 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger) to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)
Likely inborn error of metabolism - targeted testing not possible v1.269 PEX5 Sarah Leigh Marked gene: PEX5 as ready
Likely inborn error of metabolism - targeted testing not possible v1.269 PEX5 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism - targeted testing not possible v1.269 PEX5 Sarah Leigh Gene: pex5 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.269 GTPBP3 Sarah Leigh Added comment: Comment on phenotypes: 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 v1.269 GTPBP3 Sarah Leigh Phenotypes for gene: GTPBP3 were changed from 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) to Combined oxidative phosphorylation deficiency 23 616198
Likely inborn error of metabolism - targeted testing not possible v1.268 GTPBP3 Sarah Leigh Marked gene: GTPBP3 as ready
Likely inborn error of metabolism - targeted testing not possible v1.268 GTPBP3 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism - targeted testing not possible v1.268 GTPBP3 Sarah Leigh Gene: gtpbp3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.268 DPM2 Sarah Leigh Marked gene: DPM2 as ready
Likely inborn error of metabolism - targeted testing not possible v1.268 DPM2 Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Likely inborn error of metabolism - targeted testing not possible v1.268 DPM2 Sarah Leigh Gene: dpm2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.268 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570
Likely inborn error of metabolism - targeted testing not possible v1.267 CYP7B1 Sarah Leigh commented on gene: CYP7B1: Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596
Likely inborn error of metabolism - targeted testing not possible v1.267 CYP7B1 Sarah Leigh Tag treatable tag was added to gene: CYP7B1.
Likely inborn error of metabolism - targeted testing not possible v1.267 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels.
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.266 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.265 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.; to: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.
Likely inborn error of metabolism - targeted testing not possible v1.265 RBP4 Ivone Leong commented on gene: RBP4
Likely inborn error of metabolism - targeted testing not possible v1.265 PTS Ivone Leong commented on gene: PTS: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.265 PSPH Ivone Leong commented on gene: PSPH: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.265 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.265 CYP7B1 Sarah Leigh Added comment: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.
Likely inborn error of metabolism - targeted testing not possible v1.265 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.264 PTS Ivone Leong Classified gene: PTS as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.264 PTS Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. PTS is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Likely inborn error of metabolism - targeted testing not possible v1.264 PTS Ivone Leong Gene: pts has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.263 PTS Ivone Leong Phenotypes for gene: PTS were changed from Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Hyperphenylalaninemia, BH4-deficient, A 261640
Likely inborn error of metabolism - targeted testing not possible v1.262 PSPH Ivone Leong reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 9222972, 25080166; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.262 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Likely inborn error of metabolism - targeted testing not possible v1.262 ARSE Louise Daugherty commented on gene: ARSE
Likely inborn error of metabolism - targeted testing not possible v1.262 LARS Louise Daugherty Tag new-gene-name tag was added to gene: LARS.
Likely inborn error of metabolism - targeted testing not possible v1.262 LARS Louise Daugherty commented on gene: LARS
Likely inborn error of metabolism - targeted testing not possible v1.262 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Likely inborn error of metabolism - targeted testing not possible v1.262 QARS Louise Daugherty commented on gene: QARS
Likely inborn error of metabolism - targeted testing not possible v1.262 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Likely inborn error of metabolism - targeted testing not possible v1.262 GARS Louise Daugherty commented on gene: GARS
Likely inborn error of metabolism - targeted testing not possible v1.262 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Likely inborn error of metabolism - targeted testing not possible v1.262 KARS Louise Daugherty commented on gene: KARS
Likely inborn error of metabolism - targeted testing not possible v1.262 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Likely inborn error of metabolism - targeted testing not possible v1.262 DARS Louise Daugherty commented on gene: DARS
Likely inborn error of metabolism - targeted testing not possible v1.262 ALAS2 Sarah Leigh Classified gene: ALAS2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.262 ALAS2 Sarah Leigh Gene: alas2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.261 ADSL Sarah Leigh Classified gene: ADSL as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.261 ADSL Sarah Leigh Gene: adsl has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.260 ALAS2 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.260 ADSL Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.260 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.260 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.259 ADA Sarah Leigh Classified gene: ADA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.259 ADA Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.259 ACY1 Sarah Leigh Classified gene: ACY1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.259 ACY1 Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.258 ADA Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.258 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.258 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.258 ACY1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.258 ABCG8 Sarah Leigh Classified gene: ABCG8 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.258 ABCG8 Sarah Leigh Gene: abcg8 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.257 ABHD12 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.257 ABCG8 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.257 ABCG5 Sarah Leigh Classified gene: ABCG5 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.257 ABCG5 Sarah Leigh Gene: abcg5 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.256 ABCG5 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.256 ABCG5 Sarah Leigh changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases
Likely inborn error of metabolism - targeted testing not possible v1.256 ALDH3A2 Sarah Leigh Classified gene: ALDH3A2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.256 ALDH3A2 Sarah Leigh Gene: aldh3a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.255 ALDH3A2 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.255 ALDH3A2 Sarah Leigh commented on gene: ALDH3A2: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.255 ALAS2 Sarah Leigh commented on gene: ALAS2: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.255 ADSL Sarah Leigh commented on gene: ADSL: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported associated with adenylosuccinase deficiency in at least 10 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.255 ADA Sarah Leigh commented on gene: ADA: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.
Likely inborn error of metabolism - targeted testing not possible v1.255 ACY1 Sarah Leigh commented on gene: ACY1: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 9 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.255 ABHD12 Sarah Leigh commented on gene: ABHD12: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases
Likely inborn error of metabolism - targeted testing not possible v1.255 ABCG8 Sarah Leigh commented on gene: ABCG8: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in numberous unrelated cases
Likely inborn error of metabolism - targeted testing not possible v1.255 ABCG5 Sarah Leigh commented on gene: ABCG5: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases
Likely inborn error of metabolism - targeted testing not possible v1.254 ALDH3A2 Sarah Leigh reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 10792573, 10577908; Phenotypes: Sjogren-Larsson syndrome 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ALAS2 Sarah Leigh edited their review of gene: ALAS2: Added comment: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.; Changed rating: GREEN; Changed publications: 27604308, 1570328, 7560104, 12663458, 18760763; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism - targeted testing not possible v1.254 ADSL Sarah Leigh reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 18830228, 12016589, 10090474; Phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ADA Sarah Leigh reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 3684597, 2783588, 1680289; Phenotypes: Adenosine deaminase deficiency, partial 102700, Severe combined immunodeficiency due to ADA deficiency 102700, Combined B and T cell defect, SCID, Infantile enterocolitis & monogenic inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ACY1 Sarah Leigh reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 24117009, 17562838, 16465618; Phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ABHD12 Sarah Leigh reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 20797687, 24697911 ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674, Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ABCG8 Sarah Leigh reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11452359, 15996216, 11099417, 22981120; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.254 ABCG5 Sarah Leigh reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11099417, 11138003, 20719861, 17976197; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.253 PSPH Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.253 PSPH Sarah Leigh Phenotypes for gene: PSPH were changed from Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023
Likely inborn error of metabolism - targeted testing not possible v1.252 PSAT1 Sarah Leigh Classified gene: PSAT1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.252 PSAT1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038. At least 5 variants reported in 6 cases of Neu-Laxova syndrome 2 616038 and 2 variants in a case of ?Phosphoserine aminotransferase deficiency 610992.
Likely inborn error of metabolism - targeted testing not possible v1.252 PSAT1 Sarah Leigh Gene: psat1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.251 PSAT1 Sarah Leigh Publications for gene: PSAT1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.250 PSAT1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.250 PSAT1 Sarah Leigh Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Likely inborn error of metabolism - targeted testing not possible v1.249 PRPS1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.249 PRPS1 Sarah Leigh Phenotypes for gene: PRPS1 were changed from Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Likely inborn error of metabolism - targeted testing not possible v1.248 PRPS1 Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.248 PRPS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500 and Phosphoribosylpyrophosphate synthetase superactivity 300661. At least 22 variants have been reported across the phenotypes.
Likely inborn error of metabolism - targeted testing not possible v1.248 PRPS1 Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.247 PRPS1 Sarah Leigh Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.246 GATC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.246 GATC Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.246 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.246 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism - targeted testing not possible v1.246 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism - targeted testing not possible v1.245 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.244 GATC Sarah Leigh Publications for gene: GATC were set to
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.242 POR Sarah Leigh Publications for gene: POR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.241 POR Sarah Leigh Classified gene: POR as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.241 POR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and 6 variants associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571.
Likely inborn error of metabolism - targeted testing not possible v1.241 POR Sarah Leigh Gene: por has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.240 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.240 PITRM1 Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Likely inborn error of metabolism - targeted testing not possible v1.240 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.239 POR Sarah Leigh Phenotypes for gene: POR were changed from Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Likely inborn error of metabolism - targeted testing not possible v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975
Likely inborn error of metabolism - targeted testing not possible v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.236 PNP Sarah Leigh Added comment: Comment on phenotypes: SCID;Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.236 PNP Sarah Leigh Phenotypes for gene: PNP were changed from SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Likely inborn error of metabolism - targeted testing not possible v1.235 PINK1 Sarah Leigh Classified gene: PINK1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.235 PINK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.
Likely inborn error of metabolism - targeted testing not possible v1.235 PINK1 Sarah Leigh Gene: pink1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.234 PINK1 Sarah Leigh Added comment: Comment on publications: Many more publications
Likely inborn error of metabolism - targeted testing not possible v1.234 PINK1 Sarah Leigh Publications for gene: PINK1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.233 PINK1 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism - targeted testing not possible v1.233 PINK1 Sarah Leigh Phenotypes for gene: PINK1 were changed from Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism to Parkinson disease 6, early onset 605909
Likely inborn error of metabolism - targeted testing not possible v1.232 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.232 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism - targeted testing not possible v1.232 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.230 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906
Likely inborn error of metabolism - targeted testing not possible v1.230 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906; 25293775
Likely inborn error of metabolism - targeted testing not possible v1.229 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Likely inborn error of metabolism - targeted testing not possible v1.228 PIGM Sarah Leigh Added comment: Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Likely inborn error of metabolism - targeted testing not possible v1.228 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Glycosylphosphatidylinositol deficiency 610293; Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency to Glycosylphosphatidylinositol deficiency 610293
Likely inborn error of metabolism - targeted testing not possible v1.227 PHGDH Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v1.226 PHGDH Sarah Leigh Classified gene: PHGDH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.226 PHGDH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both phenotypes. At least 6 variants reported in 6 unrelated cases of Phosphoglycerate dehydrogenase deficiency 601815 and 4 variants reported in 4 unrelated cases of Neu-Laxova syndrome 1 256520.
Likely inborn error of metabolism - targeted testing not possible v1.226 PHGDH Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.225 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.225 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Likely inborn error of metabolism - targeted testing not possible v1.225 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.225 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Likely inborn error of metabolism - targeted testing not possible v1.224 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Likely inborn error of metabolism - targeted testing not possible v1.223 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Likely inborn error of metabolism - targeted testing not possible v1.223 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.221 PEPD Sarah Leigh Added comment: Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.221 PEPD Sarah Leigh Phenotypes for gene: PEPD were changed from Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) to Prolidase deficiency 170100
Likely inborn error of metabolism - targeted testing not possible v1.220 PDPR Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism - targeted testing not possible v1.220 PDPR Sarah Leigh Mode of inheritance for gene: PDPR was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Likely inborn error of metabolism - targeted testing not possible v1.219 PDPR Sarah Leigh Classified gene: PDPR as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.219 PDPR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism - targeted testing not possible v1.219 PDPR Sarah Leigh Gene: pdpr has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.218 PDPR Sarah Leigh Added comment: Comment on phenotypes: Global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism - targeted testing not possible v1.218 PDPR Sarah Leigh Phenotypes for gene: PDPR were changed from Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.217 PDPR Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065
Likely inborn error of metabolism - targeted testing not possible v1.216 PDPR Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065
Likely inborn error of metabolism - targeted testing not possible v1.215 PCSK9 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain of function variants are responsible for Hypercholesterolemia, familial, 3 603776, while loss of function variants are responsible for {Low density lipoprotein cholesterol level QTL 1} 603776.
Likely inborn error of metabolism - targeted testing not possible v1.215 PCSK9 Sarah Leigh Mode of pathogenicity for gene: PCSK9 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 v1.214 PCSK9 Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.214 PCSK9 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776.
Likely inborn error of metabolism - targeted testing not possible v1.214 PCSK9 Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.214 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776
Likely inborn error of metabolism - targeted testing not possible v1.213 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389
Likely inborn error of metabolism - targeted testing not possible v1.213 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.212 PCSK9 Sarah Leigh Added comment: Comment on phenotypes: (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v1.212 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377
Likely inborn error of metabolism - targeted testing not possible v1.211 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.211 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.211 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.209 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Likely inborn error of metabolism - targeted testing not possible v1.208 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Likely inborn error of metabolism - targeted testing not possible v1.208 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Likely inborn error of metabolism - targeted testing not possible v1.207 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.207 PCK1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Likely inborn error of metabolism - targeted testing not possible v1.207 PCK1 Sarah Leigh Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Likely inborn error of metabolism - targeted testing not possible v1.206 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308; 11479594; 12510040; 12058097; 14638969; 16240131
Likely inborn error of metabolism - targeted testing not possible v1.206 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.204 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (Disorder of iron metabolism);Pantothenate kinases deficiency (Other disorders of vitamins and cofactors)
Likely inborn error of metabolism - targeted testing not possible v1.204 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236; Early onset dystonia; Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200
Likely inborn error of metabolism - targeted testing not possible v1.203 OPLAH Sarah Leigh Added comment: Comment on phenotypes: Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism - targeted testing not possible v1.203 OPLAH Sarah Leigh Phenotypes for gene: OPLAH were changed from Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 to 5-oxoprolinase deficiency 260005
Likely inborn error of metabolism - targeted testing not possible v1.202 OPLAH Sarah Leigh Classified gene: OPLAH as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.202 OPLAH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion.
Likely inborn error of metabolism - targeted testing not possible v1.202 OPLAH Sarah Leigh Gene: oplah has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.201 OPLAH Sarah Leigh Publications for gene: OPLAH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.199 OCRL Sarah Leigh Added comment: Comment on phenotypes: 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 v1.199 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2 300555; Lowe syndrome 309000
Likely inborn error of metabolism - targeted testing not possible v1.199 OCRL Sarah Leigh Added comment: Comment on phenotypes: 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 v1.199 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Dent disease 2 300555; Lowe syndrome 309000
Likely inborn error of metabolism - targeted testing not possible v1.198 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts 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 v1.197 OCRL Sarah Leigh Publications for gene: OCRL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.196 OCRL Sarah Leigh Added comment: Comment on phenotypes: Dent disease 2 300555;Lowe syndrome 309000
Likely inborn error of metabolism - targeted testing not possible v1.196 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts 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 v1.195 NDUFB9 Sarah Leigh Classified gene: NDUFB9 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.195 NDUFB9 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported, together with supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.195 NDUFB9 Sarah Leigh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.194 NDUFB9 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.194 NDUFB9 Sarah Leigh Phenotypes for gene: NDUFB9 were changed from ?Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex I deficiency; Isolated complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 24 618245
Likely inborn error of metabolism - targeted testing not possible v1.193 NDUFB9 Sarah Leigh Added comment: Comment on publications: 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 v1.193 NDUFB9 Sarah Leigh Publications for gene: NDUFB9 were set 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 v1.192 MVK Sarah Leigh Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.191 MVK Sarah Leigh Publications for gene: MVK were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.190 MVK Sarah Leigh Classified gene: MVK as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.190 MVK Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900.
Likely inborn error of metabolism - targeted testing not possible v1.190 MVK Sarah Leigh Gene: mvk has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.189 MVK Sarah Leigh Added comment: Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
Likely inborn error of metabolism - targeted testing not possible v1.189 MVK Sarah Leigh Phenotypes for gene: MVK were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis) to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900
Likely inborn error of metabolism - targeted testing not possible v1.188 MTPAP Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism - targeted testing not possible v1.188 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from ?Spastic ataxia 4, autosomal recessive 613672; Ataxia, spastic, 4, 613672; ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) to ?Spastic ataxia 4, autosomal recessive 613672
Likely inborn error of metabolism - targeted testing not possible v1.187 MTFMT Sarah Leigh Publications for gene: MTFMT were set to 21907147; 27564080; 23499752; 24461907
Likely inborn error of metabolism - targeted testing not possible v1.186 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)).
Likely inborn error of metabolism - targeted testing not possible v1.186 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 15, 614947; Inherited white matter disorders; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial complex I deficiency, nuclear type 27 618248 to Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Likely inborn error of metabolism - targeted testing not possible v1.185 MRPL3 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v1.185 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9 614582
Likely inborn error of metabolism - targeted testing not possible v1.184 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.184 MOCS2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.184 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.183 MOCS2 Sarah Leigh Publications for gene: MOCS2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.182 MOCS2 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.182 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency B 252160
Likely inborn error of metabolism - targeted testing not possible v1.181 MOCS1 Sarah Leigh Publications for gene: MOCS1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.180 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.180 MOCS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.180 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.179 MOCS1 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.179 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency A 252150
Likely inborn error of metabolism - targeted testing not possible v1.178 MAOA Sarah Leigh Phenotypes for gene: MAOA were changed from Brunner syndrome to Brunner syndrome 300615; {Antisocial behavior} 300615
Likely inborn error of metabolism - targeted testing not possible v1.177 MAOA Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.177 MAOA Sarah Leigh Publications for gene: MAOA were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.175 MAGT1 Sarah Leigh Classified gene: MAGT1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.175 MAGT1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases, together with mouse knock-out model (PMID 29581357).
Likely inborn error of metabolism - targeted testing not possible v1.175 MAGT1 Sarah Leigh Gene: magt1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.174 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357; 25956530
Likely inborn error of metabolism - targeted testing not possible v1.173 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357
Likely inborn error of metabolism - targeted testing not possible v1.172 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411
Likely inborn error of metabolism - targeted testing not possible v1.171 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: IAP-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v1.171 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Combined B and T cell defect; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
Likely inborn error of metabolism - targeted testing not possible v1.170 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853
Likely inborn error of metabolism - targeted testing not possible v1.170 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Likely inborn error of metabolism - targeted testing not possible v1.169 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.169 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.169 LIPC Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated families with Hepatic lipase deficiency, 614025.
Likely inborn error of metabolism - targeted testing not possible v1.169 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.168 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Likely inborn error of metabolism - targeted testing not possible v1.167 LDLRAP1 Sarah Leigh Classified gene: LDLRAP1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.167 LDLRAP1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.167 LDLRAP1 Sarah Leigh Gene: ldlrap1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.166 LDLRAP1 Sarah Leigh Publications for gene: LDLRAP1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.165 LDLRAP1 Sarah Leigh Added comment: Comment on phenotypes: Familial hypercholesterolaemia;Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v1.165 LDLRAP1 Sarah Leigh Phenotypes for gene: LDLRAP1 were changed from Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 4 603813
Likely inborn error of metabolism - targeted testing not possible v1.164 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308; 27821657
Likely inborn error of metabolism - targeted testing not possible v1.163 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.162 LDLR Sarah Leigh Classified gene: LDLR as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.162 LDLR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.162 LDLR Sarah Leigh Gene: ldlr has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.161 LDLR Sarah Leigh Added comment: Comment on phenotypes: Familial hypercholesterolaemia;Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v1.161 LDLR Sarah Leigh Phenotypes for gene: LDLR were changed from Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890
Likely inborn error of metabolism - targeted testing not possible v1.160 LBR Sarah Leigh Classified gene: LBR as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.160 LBR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471.
Likely inborn error of metabolism - targeted testing not possible v1.160 LBR Sarah Leigh Gene: lbr has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.159 LBR Sarah Leigh Publications for gene: LBR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.158 LBR Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Fetal hydrops
Likely inborn error of metabolism - targeted testing not possible v1.158 LBR Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019
Likely inborn error of metabolism - targeted testing not possible v1.157 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Likely inborn error of metabolism - targeted testing not possible v1.157 ISCU Sarah Leigh Publications for gene: ISCU were set to 18304497; 29079705; 18296749; 19567699; 20206689
Likely inborn error of metabolism - targeted testing not possible v1.156 ISCU Sarah Leigh commented on gene: ISCU: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.156 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.156 HSD17B10 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for mental retardation syndromic X-linked type 10 . At least 8 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.156 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.155 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678
Likely inborn error of metabolism - targeted testing not possible v1.154 HSD17B10 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual_disability;HSD10 mitochondrial disease 300438
Likely inborn error of metabolism - targeted testing not possible v1.154 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability; HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease 300438
Likely inborn error of metabolism - targeted testing not possible v1.153 HPS1 Sarah Leigh Added comment: Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Hermansky-Pudlak Syndrome (Other lysosomal disorders);Inherited bleeding disorders
Likely inborn error of metabolism - targeted testing not possible v1.153 HPS1 Sarah Leigh Phenotypes for gene: HPS1 were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300
Likely inborn error of metabolism - targeted testing not possible v1.152 HPS1 Sarah Leigh Publications for gene: HPS1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.151 HPS1 Sarah Leigh Classified gene: HPS1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.151 HPS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.151 HPS1 Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism - targeted testing not possible v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism - targeted testing not possible v1.149 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Likely inborn error of metabolism - targeted testing not possible v1.149 HPD Sarah Leigh Classified gene: HPD as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.149 HPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for both phenotypes. At least 4 variants reported in unrelated cases of Tyrosinemia, type III 276710 and 4 variants in 6 unrelated cases of Hawkinsinuria 140350 (at least 2 of these cases were compound heterozygotes).
Likely inborn error of metabolism - targeted testing not possible v1.149 HPD Sarah Leigh Gene: hpd has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.148 HPD Sarah Leigh Publications for gene: HPD were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.147 HPD Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.147 HPD Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.147 HPD Sarah Leigh Phenotypes for gene: HPD were changed from Hawkinsinuria 140350; Tyrosinemia, type III 276710 to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Likely inborn error of metabolism - targeted testing not possible v1.147 HPD Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.147 HPD Sarah Leigh Phenotypes for gene: HPD were changed from Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Likely inborn error of metabolism - targeted testing not possible v1.146 HADH Sarah Leigh Classified gene: HADH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.146 HADH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.
Likely inborn error of metabolism - targeted testing not possible v1.146 HADH Sarah Leigh Gene: hadh has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.145 HADH Sarah Leigh Publications for gene: HADH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.144 HADH Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v1.144 HADH Sarah Leigh Phenotypes for gene: HADH were changed from Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.143 GNMT Sarah Leigh Phenotypes for gene: GNMT were changed from Glycine N-methyltransferase deficiency to Glycine N-methyltransferase deficiency 606664
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.141 GNMT Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255
Likely inborn error of metabolism - targeted testing not possible v1.140 GLUL Sarah Leigh Classified gene: GLUL as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.140 GLUL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.140 GLUL Sarah Leigh Gene: glul has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.139 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308; 16267323; 21353613
Likely inborn error of metabolism - targeted testing not possible v1.139 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.138 GLUL Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.138 GLUL Sarah Leigh Phenotypes for gene: GLUL were changed from Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) to Glutamine deficiency, congenital 610015
Likely inborn error of metabolism - targeted testing not possible v1.137 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.136 GK Sarah Leigh Publications for gene: GK were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.135 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.135 GK Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.135 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Added comment: Comment on mode of inheritance: This moi has been changed to be in with OMIM and Gen2Phen.
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Added comment: Comment on mode of inheritance: This moi has been changed to be in with OMIM and Gen2Phen.
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.133 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.132 GK Sarah Leigh Added comment: Comment on phenotypes: Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v1.132 GK Sarah Leigh Phenotypes for gene: GK were changed from Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability to Glycerol kinase deficiency 307030
Likely inborn error of metabolism - targeted testing not possible v1.131 GAMT Sarah Leigh Classified gene: GAMT as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.131 GAMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.131 GAMT Sarah Leigh Gene: gamt has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.130 GAMT Sarah Leigh Publications for gene: GAMT were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.129 GAMT Sarah Leigh Added comment: Comment on phenotypes: 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 v1.129 GAMT Sarah Leigh Phenotypes for gene: GAMT were changed from Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) to Cerebral creatine deficiency syndrome 2 612736
Likely inborn error of metabolism - targeted testing not possible v1.128 FTCD Sarah Leigh Classified gene: FTCD as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.128 FTCD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 15 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.128 FTCD Sarah Leigh Gene: ftcd has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.127 FTCD Sarah Leigh Publications for gene: FTCD were set to 27604308; 12815595
Likely inborn error of metabolism - targeted testing not possible v1.126 FTCD Sarah Leigh Publications for gene: FTCD were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.125 FTCD Sarah Leigh Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency 229100
Likely inborn error of metabolism - targeted testing not possible v1.124 FGFR2 Sarah Leigh Classified gene: FGFR2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.124 FGFR2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with 14 phenotypes in OMIM and as confirmed Gen2Phen gene for acrocephalosyndactyly type V, Antley-Bixler syndrome, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, familial scaphocephaly syndrome, Jackson-Weiss syndrome, lacrimo-auriculo-dento-digital syndrome. At least 44 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.124 FGFR2 Sarah Leigh Gene: fgfr2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.123 FGFR2 Sarah Leigh Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Likely inborn error of metabolism - targeted testing not possible v1.122 FGFR2 Sarah Leigh Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Likely inborn error of metabolism - targeted testing not possible v1.122 FGFR2 Sarah Leigh Phenotypes for gene: FGFR2 were changed from Bilateral microtia; Deafness and congenital structural abnormalities; Craniosynostosis syndromes phenotypes; Arthrogryposis; Choanal atresia; Antley-Bixler syndrome type without disordered steroidogenesis; Unexplained skeletal dysplasia to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Bent bone dysplasia syndrome 614592; Craniofacial-skeletal-dermatologic dysplasia 101600; Craniosynostosis, nonspecific; Crouzon syndrome 123500; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Pfeiffer syndrome 101600; Saethre-Chotzen syndrome 101400; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Likely inborn error of metabolism - targeted testing not possible v1.121 FGFR2 Sarah Leigh Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism - targeted testing not possible v1.120 FECH Sarah Leigh Classified gene: FECH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.120 FECH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.120 FECH Sarah Leigh Gene: fech has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.119 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 177000 to Protoporphyria, erythropoietic, 1 177000
Likely inborn error of metabolism - targeted testing not possible v1.119 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) to Protoporphyria, erythropoietic, 1 177000
Likely inborn error of metabolism - targeted testing not possible v1.118 DPM3 Sarah Leigh Classified gene: DPM3 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.118 DPM3 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.118 DPM3 Sarah Leigh Gene: dpm3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.117 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 19576565; 28803818
Likely inborn error of metabolism - targeted testing not possible v1.117 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 19576565
Likely inborn error of metabolism - targeted testing not possible v1.116 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from Congenital disorder of glycosylation, type Io 612937; Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Likely inborn error of metabolism - targeted testing not possible v1.115 DHDDS Sarah Leigh Classified gene: DHDDS as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.115 DHDDS Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Retinitis pigmentosa 59 613861. One variant was reported in at least 15 families with retinitis pigmentosa, but only one compound individual with glycosylation defects was identifed so far (PMID 27343064).
Likely inborn error of metabolism - targeted testing not possible v1.115 DHDDS Sarah Leigh Gene: dhdds has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.114 DHDDS Sarah Leigh Added comment: Comment on phenotypes: Posterior segment abnormalities;Retinitis pigmentosa (other congenital disorders of glycosylation)
Likely inborn error of metabolism - targeted testing not possible v1.114 DHDDS Sarah Leigh Phenotypes for gene: DHDDS were changed from ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861
Likely inborn error of metabolism - targeted testing not possible v1.113 DHODH Sarah Leigh Classified gene: DHODH as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.113 DHODH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380).
Likely inborn error of metabolism - targeted testing not possible v1.113 DHODH Sarah Leigh Gene: dhodh has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.112 DHODH Sarah Leigh Publications for gene: DHODH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.111 DHODH Sarah Leigh Added comment: Comment on phenotypes: 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 v1.111 DHODH Sarah Leigh Phenotypes for gene: DHODH were changed from Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) to Miller syndrome 263750
Likely inborn error of metabolism - targeted testing not possible v1.110 DHDDS Sarah Leigh Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) to ?Congenital disorder of glycosylation, type 1bb 613861; Developmental delay and seizures with or without movement abnormalities 617836; Retinitis pigmentosa 59 613861
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Classified gene: DHCR24 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented.
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Gene: dhcr24 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Classified gene: DHCR24 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented.
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Gene: dhcr24 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.108 DHCR24 Sarah Leigh Publications for gene: DHCR24 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.107 DHCR24 Sarah Leigh Added comment: Comment on phenotypes: Desmosterolosis (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v1.107 DHCR24 Sarah Leigh Phenotypes for gene: DHCR24 were changed from Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability to Desmosterolosis 602398
Likely inborn error of metabolism - targeted testing not possible v1.106 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570
Likely inborn error of metabolism - targeted testing not possible v1.105 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570
Likely inborn error of metabolism - targeted testing not possible v1.105 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873
Likely inborn error of metabolism - targeted testing not possible v1.104 DCXR Sarah Leigh Classified gene: DCXR as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.104 DCXR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein.
Likely inborn error of metabolism - targeted testing not possible v1.104 DCXR Sarah Leigh Gene: dcxr has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.103 DCXR Sarah Leigh changed review comment from: Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated for diabetes mellitus with insulin (PMID 22042873).; to: Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated inappropriately for diabetes mellitus with insulin (PMID 22042873).
Likely inborn error of metabolism - targeted testing not possible v1.103 DCXR Sarah Leigh Added comment: Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated for diabetes mellitus with insulin (PMID 22042873).
Likely inborn error of metabolism - targeted testing not possible v1.103 DCXR Sarah Leigh Phenotypes for gene: DCXR were changed from [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism) to [Pentosuria] 260800
Likely inborn error of metabolism - targeted testing not possible v1.102 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.101 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.
Likely inborn error of metabolism - targeted testing not possible v1.101 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883
Likely inborn error of metabolism - targeted testing not possible v1.100 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.100 CYP7B1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.
Likely inborn error of metabolism - targeted testing not possible v1.100 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.99 CYP7B1 Sarah Leigh Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3 to Bile acid synthesis defect, congenital, 3 613812; Spastic paraplegia 5A, autosomal recessive 270800
Likely inborn error of metabolism - targeted testing not possible v1.98 CTSC Sarah Leigh Classified gene: CTSC as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.98 CTSC Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
Likely inborn error of metabolism - targeted testing not possible v1.98 CTSC Sarah Leigh Gene: ctsc has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.97 CTSC Sarah Leigh Added comment: Comment on phenotypes: Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasia
Likely inborn error of metabolism - targeted testing not possible v1.97 CTSC Sarah Leigh Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650
Likely inborn error of metabolism - targeted testing not possible v1.96 CSTB Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v1.96 CSTB Sarah Leigh Phenotypes for gene: CSTB were changed from Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Likely inborn error of metabolism - targeted testing not possible v1.95 CLDN19 Sarah Leigh Added comment: Comment on phenotypes: 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 v1.95 CLDN19 Sarah Leigh Phenotypes for gene: CLDN19 were changed from Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 5, renal, with ocular involvement 248190
Likely inborn error of metabolism - targeted testing not possible v1.95 CLDN19 Sarah Leigh Publications for gene: CLDN19 were set to 27604308; 22422540; 17033971
Likely inborn error of metabolism - targeted testing not possible v1.94 CLDN19 Sarah Leigh Publications for gene: CLDN19 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.93 CLDN19 Sarah Leigh Classified gene: CLDN19 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.93 CLDN19 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 6 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.93 CLDN19 Sarah Leigh Gene: cldn19 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.92 CLDN16 Sarah Leigh Classified gene: CLDN16 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.92 CLDN16 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.92 CLDN16 Sarah Leigh Gene: cldn16 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.91 CLDN16 Sarah Leigh Added comment: Comment on phenotypes: Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.91 CLDN16 Sarah Leigh Phenotypes for gene: CLDN16 were changed from Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) to Hypomagnesemia 3, renal 248250
Likely inborn error of metabolism - targeted testing not possible v1.90 CISD2 Sarah Leigh Classified gene: CISD2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.90 CISD2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases, together with segration and functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.90 CISD2 Sarah Leigh Gene: cisd2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.89 CISD2 Sarah Leigh Publications for gene: CISD2 were set to 27604308; 17846994; 25056293; 25371195; 29237418
Likely inborn error of metabolism - targeted testing not possible v1.89 CISD2 Sarah Leigh Publications for gene: CISD2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.88 CISD2 Sarah Leigh Added comment: Comment on phenotypes: 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 v1.88 CISD2 Sarah Leigh Phenotypes for gene: CISD2 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability to Wolfram syndrome 2 604928
Likely inborn error of metabolism - targeted testing not possible v1.87 ASAH1 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Likely inborn error of metabolism - targeted testing not possible v1.87 APOB Sarah Leigh changed review comment from: Comment on list classification: At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.
Likely inborn error of metabolism - targeted testing not possible v1.87 APOB Sarah Leigh Classified gene: APOB as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.87 APOB Sarah Leigh Added comment: Comment on list classification: At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.
Likely inborn error of metabolism - targeted testing not possible v1.87 APOB Sarah Leigh Gene: apob has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.86 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558
Likely inborn error of metabolism - targeted testing not possible v1.85 ALPL Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Likely inborn error of metabolism - targeted testing not possible v1.85 ALG13 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).
Likely inborn error of metabolism - targeted testing not possible v1.85 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Likely inborn error of metabolism - targeted testing not possible v1.84 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Likely inborn error of metabolism - targeted testing not possible v1.84 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.83 ALPL Sarah Leigh Classified gene: ALPL as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.83 ALPL Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Likely inborn error of metabolism - targeted testing not possible v1.83 ALPL Sarah Leigh Gene: alpl has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.82 ALPL Sarah Leigh Phenotypes for gene: ALPL were changed from Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism) to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile241500; Odontohypophosphatasia 146300
Likely inborn error of metabolism - targeted testing not possible v1.81 ALG13 Sarah Leigh Classified gene: ALG13 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.81 ALG13 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).
Likely inborn error of metabolism - targeted testing not possible v1.81 ALG13 Sarah Leigh Gene: alg13 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.80 ALG13 Sarah Leigh Phenotypes for gene: ALG13 were changed from Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 36 300884 to ?Congenital disorder of glycosylation, type Is 300884; Epileptic encephalopathy, early infantile, 36 300884
Likely inborn error of metabolism - targeted testing not possible v1.79 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded here.
Likely inborn error of metabolism - targeted testing not possible v1.79 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.78 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).
Likely inborn error of metabolism - targeted testing not possible v1.78 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.78 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).
Likely inborn error of metabolism - targeted testing not possible v1.78 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.76 WARS2 Sarah Leigh Source Expert Review Green was added to WARS2.
Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 UQCRB Sarah Leigh Source Expert Review Green was added to UQCRB.
Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB
Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TUFM Sarah Leigh Source Expert Review Green was added to TUFM.
Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM
Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRMT5 Sarah Leigh Source Expert Review Green was added to TRMT5.
Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5
Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRMT10C Sarah Leigh Source Expert Review Green was added to TRMT10C.
Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Publications for gene TRMT10C were changed from to 27132592
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRIT1 Sarah Leigh Source Expert Review Green was added to TRIT1.
Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1
Publications for gene TRIT1 were changed from to 24901367; 28185376
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TOP3A Sarah Leigh gene: TOP3A was added
gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Likely inborn error of metabolism - targeted testing not possible v1.76 TMEM126B Sarah Leigh Source Expert Review Green was added to TMEM126B.
Added phenotypes Isolated complex I deficiency for gene: TMEM126B
Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TIMM50 Sarah Leigh Source Expert Review Green was added to TIMM50.
Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SLC25A42 Sarah Leigh Source Expert Review Green was added to SLC25A42.
Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42
Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SLC25A12 Sarah Leigh Source Expert Review Green was added to SLC25A12.
Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12
Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SFXN4 Sarah Leigh Source Expert Review Green was added to SFXN4.
Mode of inheritance for gene SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Publications for gene SFXN4 were changed from to 24119684
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 RTN4IP1 Sarah Leigh Source Expert Review Green was added to RTN4IP1.
Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1
Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Publications for gene QRSL1 were changed from to 29440775; 26741492
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8
Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PMPCB Sarah Leigh gene: PMPCB was added
gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Likely inborn error of metabolism - targeted testing not possible v1.76 PITRM1 Sarah Leigh Source Expert Review Green was added to PITRM1.
Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1
Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PARS2 Sarah Leigh Source Expert Review Green was added to PARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2
Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFB8 Sarah Leigh Source Expert Review Green was added to NDUFB8.
Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8
Publications for gene NDUFB8 were changed from to 27290639; 29429571
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFB3 Sarah Leigh Added phenotypes Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB3
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFAF8 Sarah Leigh gene: NDUFAF8 was added
gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA9 Sarah Leigh Source Expert Review Green was added to NDUFA9.
Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6
Publications for gene NDUFA6 were changed from to 30245030
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA4 Sarah Leigh Source Expert Review Green was added to NDUFA4.
Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4
Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NAXE Sarah Leigh Source Expert Review Green was added to NAXE.
Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE
Publications for gene NAXE were changed from to 27616477; 27290639; 27122014
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NADK2 Sarah Leigh Source Expert Review Green was added to NADK2.
Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2
Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MTPAP Sarah Leigh Source Expert Review Green was added to MTPAP.
Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP
Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT
Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MRPS2 Sarah Leigh Source Expert Review Green was added to MRPS2.
Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2
Publications for gene MRPS2 were changed from to 29576219
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MRPL3 Sarah Leigh Source Expert Review Green was added to MRPL3.
Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MPC1 Sarah Leigh Source Expert Review Green was added to MPC1.
Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1
Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MIPEP Sarah Leigh gene: MIPEP was added
gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Likely inborn error of metabolism - targeted testing not possible v1.76 MICU1 Sarah Leigh Source Expert Review Green was added to MICU1.
Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1
Publications for gene MICU1 were changed from to 24336167; 29721912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MECR Sarah Leigh Source Expert Review Green was added to MECR.
Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 LYRM7 Sarah Leigh Source Expert Review Green was added to LYRM7.
Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7
Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 LIPT2 Sarah Leigh Source Expert Review Green was added to LIPT2.
Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Publications for gene LIPT2 were changed from to 28803783; 28757203
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 ISCU Sarah Leigh Source Expert Review Green was added to ISCU.
Mode of inheritance for gene ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU
Publications for gene ISCU were changed from 27604308 to 18304497; 29079705; 18296749; 19567699; 20206689
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 ISCA1 Sarah Leigh gene: ISCA1 was added
gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 29767723; 28356563
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Likely inborn error of metabolism - targeted testing not possible v1.76 HSD17B10 Sarah Leigh Source Expert Review Green was added to HSD17B10.
Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10
Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 HARS2 Sarah Leigh Source Expert Review Green was added to HARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2
Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 GFM2 Sarah Leigh Source Expert Review Green was added to GFM2.
Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2
Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 COA7 Sarah Leigh gene: COA7 was added
gene: COA7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Likely inborn error of metabolism - targeted testing not possible v1.76 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2
Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 C19orf70 Sarah Leigh gene: C19orf70 was added
gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329
Likely inborn error of metabolism - targeted testing not possible v1.76 ATP5D Sarah Leigh gene: ATP5D was added
gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Likely inborn error of metabolism - targeted testing not possible v1.75 STAT2 Sarah Leigh Classified gene: STAT2 as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.75 STAT2 Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel.
Likely inborn error of metabolism - targeted testing not possible v1.75 STAT2 Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.74 STAT2 Sarah Leigh Phenotypes for gene: STAT2 were changed from elongated mitochondria; severe neurological deterioration following viral infection to Immunodeficiency 44 616636; elongated mitochondria; severe neurological deterioration following viral infection
Likely inborn error of metabolism - targeted testing not possible v1.73 ROBO3 Sarah Leigh Classified gene: ROBO3 as Red List (low evidence)
Likely inborn error of metabolism - targeted testing not possible v1.73 ROBO3 Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.
Likely inborn error of metabolism - targeted testing not possible v1.73 ROBO3 Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.72 FXN Sarah Leigh Classified gene: FXN as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.72 FXN Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases.
FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions.
Likely inborn error of metabolism - targeted testing not possible v1.72 FXN Sarah Leigh Gene: fxn has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.71 RANBP2 Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.71 RANBP2 Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association.
Likely inborn error of metabolism - targeted testing not possible v1.71 RANBP2 Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.70 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.69 PGAM2 Sarah Leigh Publications for gene: PGAM2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.68 PGAM2 Sarah Leigh Phenotypes for gene: PGAM2 were changed from Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders to Glycogen storage disease X 261670
Likely inborn error of metabolism - targeted testing not possible v1.67 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta to Mannosidosis, beta 248510
Likely inborn error of metabolism - targeted testing not possible v1.66 MANBA Sarah Leigh Classified gene: MANBA as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.66 MANBA Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in 6 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.66 MANBA Sarah Leigh Gene: manba has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.65 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v1.64 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308; 29169047; 22703880; 24164096
Likely inborn error of metabolism - targeted testing not possible v1.63 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v1.63 ASAH1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.63 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.63 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Likely inborn error of metabolism - targeted testing not possible v1.62 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.61 DHCR7 Sarah Leigh changed review comment from: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.; to: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.

Although single gene testing has been commissioned for DHCR7, it is well established as an inherited metabolic disorder and ought to be included in the overall panel in case it has not been biochemically excluded initially
Saikat Santra (Birmingham Children's Hospital), 21 Dec 2018
Likely inborn error of metabolism - targeted testing not possible v1.61 DHCR7 Sarah Leigh Classified gene: DHCR7 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.61 DHCR7 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.61 DHCR7 Sarah Leigh Gene: dhcr7 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.60 PARS2 Eleanor Williams Added comment: Comment on phenotypes: Phenotype association added to OMIM in May 2019
Likely inborn error of metabolism - targeted testing not possible v1.60 PARS2 Eleanor Williams Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome. to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.
Likely inborn error of metabolism - targeted testing not possible v1.60 PARS2 Eleanor Williams Added comment: Comment on phenotypes: Phenotype association added to OMIM in May 2019
Likely inborn error of metabolism - targeted testing not possible v1.60 PARS2 Eleanor Williams Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome. to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.
Likely inborn error of metabolism - targeted testing not possible v1.57 UQCRQ Sarah Leigh Phenotypes for gene: UQCRQ were changed from 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 to Mitochondrial complex III deficiency, nuclear type 4, 615159
Likely inborn error of metabolism - targeted testing not possible v1.56 UQCRQ Sarah Leigh Publications for gene: UQCRQ were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.55 UQCRQ Sarah Leigh Classified gene: UQCRQ as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.55 UQCRQ Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546).
Likely inborn error of metabolism - targeted testing not possible v1.55 UQCRQ Sarah Leigh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.54 TMEM5 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM5.
Likely inborn error of metabolism - targeted testing not possible v1.54 TMEM5 Louise Daugherty commented on gene: TMEM5
Likely inborn error of metabolism - targeted testing not possible v1.54 MUT Louise Daugherty commented on gene: MUT
Likely inborn error of metabolism - targeted testing not possible v1.54 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Likely inborn error of metabolism - targeted testing not possible v1.54 HFE2 Louise Daugherty Tag new-gene-name tag was added to gene: HFE2.
Likely inborn error of metabolism - targeted testing not possible v1.54 HFE2 Louise Daugherty commented on gene: HFE2
Likely inborn error of metabolism - targeted testing not possible v1.54 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Likely inborn error of metabolism - targeted testing not possible v1.54 GIF Louise Daugherty commented on gene: GIF
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5O Louise Daugherty commented on gene: ATP5O
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5O Louise Daugherty Tag new-gene-name tag was added to gene: ATP5O.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5J Louise Daugherty Tag new-gene-name tag was added to gene: ATP5J.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5J Louise Daugherty commented on gene: ATP5J
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5I Louise Daugherty Tag new-gene-name tag was added to gene: ATP5I.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5I Louise Daugherty commented on gene: ATP5I
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G3 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G3.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G3 Louise Daugherty commented on gene: ATP5G3
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G2.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G2 Louise Daugherty commented on gene: ATP5G2
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G1.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5G1 Louise Daugherty commented on gene: ATP5G1
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5E Louise Daugherty commented on gene: ATP5E
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5E Louise Daugherty Tag new-gene-name tag was added to gene: ATP5E.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5C1 Louise Daugherty commented on gene: ATP5C1
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5C1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5C1.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5B Louise Daugherty commented on gene: ATP5B
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5B Louise Daugherty Tag new-gene-name tag was added to gene: ATP5B.
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5A1 Louise Daugherty commented on gene: ATP5A1
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5A1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v1.54 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Likely inborn error of metabolism - targeted testing not possible v1.54 APOPT1 Louise Daugherty commented on gene: APOPT1
Likely inborn error of metabolism - targeted testing not possible v1.54 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.53 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Likely inborn error of metabolism - targeted testing not possible v1.53 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism - targeted testing not possible v1.52 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Likely inborn error of metabolism - targeted testing not possible v1.51 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.50 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.50 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence.
Likely inborn error of metabolism - targeted testing not possible v1.50 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.49 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.49 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'.
Likely inborn error of metabolism - targeted testing not possible v1.49 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.48 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.47 YARS2 Ivone Leong Source NHS GMS was added to YARS2.
Source London North GLH was added to YARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 XDH Ivone Leong Source NHS GMS was added to XDH.
Source London North GLH was added to XDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Source London North GLH was added to WFS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 WDR45 Ivone Leong Source NHS GMS was added to WDR45.
Source London North GLH was added to WDR45.
Likely inborn error of metabolism - targeted testing not possible v1.47 VPS33B Ivone Leong Source NHS GMS was added to VPS33B.
Source London North GLH was added to VPS33B.
Likely inborn error of metabolism - targeted testing not possible v1.47 VKORC1 Ivone Leong Source NHS GMS was added to VKORC1.
Source London North GLH was added to VKORC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 VIPAS39 Ivone Leong Source NHS GMS was added to VIPAS39.
Source London North GLH was added to VIPAS39.
Likely inborn error of metabolism - targeted testing not possible v1.47 USF1 Ivone Leong Source NHS GMS was added to USF1.
Source London North GLH was added to USF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 UROS Ivone Leong Source NHS GMS was added to UROS.
Source London North GLH was added to UROS.
Likely inborn error of metabolism - targeted testing not possible v1.47 UROD Ivone Leong Source NHS GMS was added to UROD.
Source London North GLH was added to UROD.
Likely inborn error of metabolism - targeted testing not possible v1.47 UROC1 Ivone Leong Source NHS GMS was added to UROC1.
Source London North GLH was added to UROC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 UQCRQ Ivone Leong Source NHS GMS was added to UQCRQ.
Source London North GLH was added to UQCRQ.
Likely inborn error of metabolism - targeted testing not possible v1.47 UQCRB Ivone Leong Source NHS GMS was added to UQCRB.
Source London North GLH was added to UQCRB.
Likely inborn error of metabolism - targeted testing not possible v1.47 UPB1 Ivone Leong Source NHS GMS was added to UPB1.
Source London North GLH was added to UPB1.
Likely inborn error of metabolism - targeted testing not possible v1.47 UMPS Ivone Leong Source NHS GMS was added to UMPS.
Source London North GLH was added to UMPS.
Likely inborn error of metabolism - targeted testing not possible v1.47 UMOD Ivone Leong Source NHS GMS was added to UMOD.
Source London North GLH was added to UMOD.
Likely inborn error of metabolism - targeted testing not possible v1.47 UGT1A1 Ivone Leong Source NHS GMS was added to UGT1A1.
Source London North GLH was added to UGT1A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 TYMP Ivone Leong Source NHS GMS was added to TYMP.
Source London North GLH was added to TYMP.
Likely inborn error of metabolism - targeted testing not possible v1.47 TUSC3 Ivone Leong Source NHS GMS was added to TUSC3.
Source London North GLH was added to TUSC3.
Likely inborn error of metabolism - targeted testing not possible v1.47 TUFM Ivone Leong Source NHS GMS was added to TUFM.
Source London North GLH was added to TUFM.
Likely inborn error of metabolism - targeted testing not possible v1.47 TTPA Ivone Leong Source NHS GMS was added to TTPA.
Source London North GLH was added to TTPA.
Likely inborn error of metabolism - targeted testing not possible v1.47 TTC37 Ivone Leong Source NHS GMS was added to TTC37.
Source London North GLH was added to TTC37.
Likely inborn error of metabolism - targeted testing not possible v1.47 TTC19 Ivone Leong Source NHS GMS was added to TTC19.
Source London North GLH was added to TTC19.
Likely inborn error of metabolism - targeted testing not possible v1.47 TSFM Ivone Leong Source NHS GMS was added to TSFM.
Source London North GLH was added to TSFM.
Likely inborn error of metabolism - targeted testing not possible v1.47 TRPM6 Ivone Leong Source NHS GMS was added to TRPM6.
Source London North GLH was added to TRPM6.
Likely inborn error of metabolism - targeted testing not possible v1.47 TRMU Ivone Leong Source NHS GMS was added to TRMU.
Source London North GLH was added to TRMU.
Likely inborn error of metabolism - targeted testing not possible v1.47 TRIM37 Ivone Leong Source NHS GMS was added to TRIM37.
Source London North GLH was added to TRIM37.
Likely inborn error of metabolism - targeted testing not possible v1.47 TREX1 Ivone Leong Source NHS GMS was added to TREX1.
Source London North GLH was added to TREX1.
Likely inborn error of metabolism - targeted testing not possible v1.47 TREH Ivone Leong Source NHS GMS was added to TREH.
Source London North GLH was added to TREH.
Likely inborn error of metabolism - targeted testing not possible v1.47 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Source London North GLH was added to TPP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 TPMT Ivone Leong Source NHS GMS was added to TPMT.
Source London North GLH was added to TPMT.
Likely inborn error of metabolism - targeted testing not possible v1.47 TMEM70 Ivone Leong Source NHS GMS was added to TMEM70.
Source London North GLH was added to TMEM70.
Likely inborn error of metabolism - targeted testing not possible v1.47 TMEM165 Ivone Leong Source NHS GMS was added to TMEM165.
Source London North GLH was added to TMEM165.
Likely inborn error of metabolism - targeted testing not possible v1.47 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Source London North GLH was added to TMEM126A.
Likely inborn error of metabolism - targeted testing not possible v1.47 TK2 Ivone Leong Source NHS GMS was added to TK2.
Source London North GLH was added to TK2.
Likely inborn error of metabolism - targeted testing not possible v1.47 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Source London North GLH was added to TIMM8A.
Likely inborn error of metabolism - targeted testing not possible v1.47 TH Ivone Leong Source NHS GMS was added to TH.
Source London North GLH was added to TH.
Likely inborn error of metabolism - targeted testing not possible v1.47 TFR2 Ivone Leong Source NHS GMS was added to TFR2.
Source London North GLH was added to TFR2.
Likely inborn error of metabolism - targeted testing not possible v1.47 TDO2 Ivone Leong Source NHS GMS was added to TDO2.
Source London North GLH was added to TDO2.
Likely inborn error of metabolism - targeted testing not possible v1.47 TCN2 Ivone Leong Source NHS GMS was added to TCN2.
Source London North GLH was added to TCN2.
Likely inborn error of metabolism - targeted testing not possible v1.47 TCN1 Ivone Leong Source NHS GMS was added to TCN1.
Source London North GLH was added to TCN1.
Likely inborn error of metabolism - targeted testing not possible v1.47 TAZ Ivone Leong Source NHS GMS was added to TAZ.
Source London North GLH was added to TAZ.
Likely inborn error of metabolism - targeted testing not possible v1.47 TAT Ivone Leong Source NHS GMS was added to TAT.
Source London North GLH was added to TAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 TALDO1 Ivone Leong Source NHS GMS was added to TALDO1.
Source London North GLH was added to TALDO1.
Likely inborn error of metabolism - targeted testing not possible v1.47 TACO1 Ivone Leong Source NHS GMS was added to TACO1.
Source London North GLH was added to TACO1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SURF1 Ivone Leong Source NHS GMS was added to SURF1.
Source London North GLH was added to SURF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUOX Ivone Leong Source NHS GMS was added to SUOX.
Source London North GLH was added to SUOX.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUMF1 Ivone Leong Source NHS GMS was added to SUMF1.
Source London North GLH was added to SUMF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUGCT Ivone Leong Source NHS GMS was added to SUGCT.
Source London North GLH was added to SUGCT.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUCLG2 Ivone Leong Source NHS GMS was added to SUCLG2.
Source London North GLH was added to SUCLG2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUCLG1 Ivone Leong Source NHS GMS was added to SUCLG1.
Source London North GLH was added to SUCLG1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SUCLA2 Ivone Leong Source NHS GMS was added to SUCLA2.
Source London North GLH was added to SUCLA2.
Likely inborn error of metabolism - targeted testing not possible v1.47 STS Ivone Leong Source NHS GMS was added to STS.
Source London North GLH was added to STS.
Likely inborn error of metabolism - targeted testing not possible v1.47 ST3GAL5 Ivone Leong Source NHS GMS was added to ST3GAL5.
Source London North GLH was added to ST3GAL5.
Likely inborn error of metabolism - targeted testing not possible v1.47 ST3GAL3 Ivone Leong Source NHS GMS was added to ST3GAL3.
Source London North GLH was added to ST3GAL3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SRD5A3 Ivone Leong Source NHS GMS was added to SRD5A3.
Source London North GLH was added to SRD5A3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SPTLC2 Ivone Leong Source NHS GMS was added to SPTLC2.
Source London North GLH was added to SPTLC2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SPTLC1 Ivone Leong Source NHS GMS was added to SPTLC1.
Source London North GLH was added to SPTLC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SPR Ivone Leong Source NHS GMS was added to SPR.
Source London North GLH was added to SPR.
Likely inborn error of metabolism - targeted testing not possible v1.47 SPG7 Ivone Leong Source NHS GMS was added to SPG7.
Source London North GLH was added to SPG7.
Likely inborn error of metabolism - targeted testing not possible v1.47 SMPD1 Ivone Leong Source NHS GMS was added to SMPD1.
Source London North GLH was added to SMPD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC7A9 Ivone Leong Source NHS GMS was added to SLC7A9.
Source London North GLH was added to SLC7A9.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC7A7 Ivone Leong Source NHS GMS was added to SLC7A7.
Source London North GLH was added to SLC7A7.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC6A8 Ivone Leong Source NHS GMS was added to SLC6A8.
Source London North GLH was added to SLC6A8.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC6A3 Ivone Leong Source NHS GMS was added to SLC6A3.
Source London North GLH was added to SLC6A3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC6A19 Ivone Leong Source NHS GMS was added to SLC6A19.
Source London North GLH was added to SLC6A19.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC5A1 Ivone Leong Source NHS GMS was added to SLC5A1.
Source London North GLH was added to SLC5A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC46A1 Ivone Leong Source NHS GMS was added to SLC46A1.
Source London North GLH was added to SLC46A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC40A1 Ivone Leong Source NHS GMS was added to SLC40A1.
Source London North GLH was added to SLC40A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC3A1 Ivone Leong Source NHS GMS was added to SLC3A1.
Source London North GLH was added to SLC3A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC39A8 Ivone Leong Source NHS GMS was added to SLC39A8.
Source London North GLH was added to SLC39A8.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC39A4 Ivone Leong Source NHS GMS was added to SLC39A4.
Source London North GLH was added to SLC39A4.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC37A4 Ivone Leong Source NHS GMS was added to SLC37A4.
Source London North GLH was added to SLC37A4.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC36A2 Ivone Leong Source NHS GMS was added to SLC36A2.
Source London North GLH was added to SLC36A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC35D1 Ivone Leong Source NHS GMS was added to SLC35D1.
Source London North GLH was added to SLC35D1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC35C1 Ivone Leong Source NHS GMS was added to SLC35C1.
Source London North GLH was added to SLC35C1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC35A2 Ivone Leong Source NHS GMS was added to SLC35A2.
Source London North GLH was added to SLC35A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC35A1 Ivone Leong Source NHS GMS was added to SLC35A1.
Source London North GLH was added to SLC35A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC30A10 Ivone Leong Source NHS GMS was added to SLC30A10.
Source London North GLH was added to SLC30A10.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC2A2 Ivone Leong Source NHS GMS was added to SLC2A2.
Source London North GLH was added to SLC2A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC2A1 Ivone Leong Source NHS GMS was added to SLC2A1.
Source London North GLH was added to SLC2A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC27A5 Ivone Leong Source NHS GMS was added to SLC27A5.
Source London North GLH was added to SLC27A5.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A4 Ivone Leong Source NHS GMS was added to SLC25A4.
Source London North GLH was added to SLC25A4.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A38 Ivone Leong Source NHS GMS was added to SLC25A38.
Source London North GLH was added to SLC25A38.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A3 Ivone Leong Source NHS GMS was added to SLC25A3.
Source London North GLH was added to SLC25A3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A22 Ivone Leong Source NHS GMS was added to SLC25A22.
Source London North GLH was added to SLC25A22.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A20 Ivone Leong Source NHS GMS was added to SLC25A20.
Source London North GLH was added to SLC25A20.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A2 Ivone Leong Source NHS GMS was added to SLC25A2.
Source London North GLH was added to SLC25A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A19 Ivone Leong Source NHS GMS was added to SLC25A19.
Source London North GLH was added to SLC25A19.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A15 Ivone Leong Source NHS GMS was added to SLC25A15.
Source London North GLH was added to SLC25A15.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A13 Ivone Leong Source NHS GMS was added to SLC25A13.
Source London North GLH was added to SLC25A13.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A12 Ivone Leong Source NHS GMS was added to SLC25A12.
Source London North GLH was added to SLC25A12.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC25A1 Ivone Leong Source NHS GMS was added to SLC25A1.
Source London North GLH was added to SLC25A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC22A5 Ivone Leong Source NHS GMS was added to SLC22A5.
Source London North GLH was added to SLC22A5.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC19A3 Ivone Leong Source NHS GMS was added to SLC19A3.
Source London North GLH was added to SLC19A3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC19A2 Ivone Leong Source NHS GMS was added to SLC19A2.
Source London North GLH was added to SLC19A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC18A2 Ivone Leong Source NHS GMS was added to SLC18A2.
Source London North GLH was added to SLC18A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC17A5 Ivone Leong Source NHS GMS was added to SLC17A5.
Source London North GLH was added to SLC17A5.
Likely inborn error of metabolism - targeted testing not possible v1.47 SLC12A3 Ivone Leong Source NHS GMS was added to SLC12A3.
Source London North GLH was added to SLC12A3.
Likely inborn error of metabolism - targeted testing not possible v1.47 SKIV2L Ivone Leong Source NHS GMS was added to SKIV2L.
Source London North GLH was added to SKIV2L.
Likely inborn error of metabolism - targeted testing not possible v1.47 SI Ivone Leong Source NHS GMS was added to SI.
Source London North GLH was added to SI.
Likely inborn error of metabolism - targeted testing not possible v1.47 SHPK Ivone Leong Source NHS GMS was added to SHPK.
Source London North GLH was added to SHPK.
Likely inborn error of metabolism - targeted testing not possible v1.47 SGSH Ivone Leong Source NHS GMS was added to SGSH.
Source London North GLH was added to SGSH.
Likely inborn error of metabolism - targeted testing not possible v1.47 SETX Ivone Leong Source NHS GMS was added to SETX.
Source London North GLH was added to SETX.
Likely inborn error of metabolism - targeted testing not possible v1.47 SERAC1 Ivone Leong Source NHS GMS was added to SERAC1.
Source London North GLH was added to SERAC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SEC23B Ivone Leong Source NHS GMS was added to SEC23B.
Source London North GLH was added to SEC23B.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHD Ivone Leong Source NHS GMS was added to SDHD.
Source London North GLH was added to SDHD.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHC Ivone Leong Source NHS GMS was added to SDHC.
Source London North GLH was added to SDHC.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHB Ivone Leong Source NHS GMS was added to SDHB.
Source London North GLH was added to SDHB.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHAF2 Ivone Leong Source NHS GMS was added to SDHAF2.
Source London North GLH was added to SDHAF2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHAF1 Ivone Leong Source NHS GMS was added to SDHAF1.
Source London North GLH was added to SDHAF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHA Ivone Leong Source NHS GMS was added to SDHA.
Source London North GLH was added to SDHA.
Likely inborn error of metabolism - targeted testing not possible v1.47 SCP2 Ivone Leong Source NHS GMS was added to SCP2.
Source London North GLH was added to SCP2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SCO2 Ivone Leong Source NHS GMS was added to SCO2.
Source London North GLH was added to SCO2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SCO1 Ivone Leong Source NHS GMS was added to SCO1.
Source London North GLH was added to SCO1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SCARB1 Ivone Leong Source NHS GMS was added to SCARB1.
Source London North GLH was added to SCARB1.
Likely inborn error of metabolism - targeted testing not possible v1.47 SC5D Ivone Leong Source NHS GMS was added to SC5D.
Source London North GLH was added to SC5D.
Likely inborn error of metabolism - targeted testing not possible v1.47 SARS2 Ivone Leong Source NHS GMS was added to SARS2.
Source London North GLH was added to SARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 SARDH Ivone Leong Source NHS GMS was added to SARDH.
Source London North GLH was added to SARDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 SAR1B Ivone Leong Source NHS GMS was added to SAR1B.
Source London North GLH was added to SAR1B.
Likely inborn error of metabolism - targeted testing not possible v1.47 SAMHD1 Ivone Leong Source NHS GMS was added to SAMHD1.
Source London North GLH was added to SAMHD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 RRM2B Ivone Leong Source NHS GMS was added to RRM2B.
Source London North GLH was added to RRM2B.
Likely inborn error of metabolism - targeted testing not possible v1.47 RPIA Ivone Leong Source NHS GMS was added to RPIA.
Source London North GLH was added to RPIA.
Likely inborn error of metabolism - targeted testing not possible v1.47 RNASET2 Ivone Leong Source NHS GMS was added to RNASET2.
Source London North GLH was added to RNASET2.
Likely inborn error of metabolism - targeted testing not possible v1.47 RNASEH2C Ivone Leong Source NHS GMS was added to RNASEH2C.
Source London North GLH was added to RNASEH2C.
Likely inborn error of metabolism - targeted testing not possible v1.47 RNASEH2B Ivone Leong Source NHS GMS was added to RNASEH2B.
Source London North GLH was added to RNASEH2B.
Likely inborn error of metabolism - targeted testing not possible v1.47 RNASEH2A Ivone Leong Source NHS GMS was added to RNASEH2A.
Source London North GLH was added to RNASEH2A.
Likely inborn error of metabolism - targeted testing not possible v1.47 RMND1 Ivone Leong Source NHS GMS was added to RMND1.
Source London North GLH was added to RMND1.
Likely inborn error of metabolism - targeted testing not possible v1.47 RFT1 Ivone Leong Source NHS GMS was added to RFT1.
Source London North GLH was added to RFT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Source London North GLH was added to RBP4.
Likely inborn error of metabolism - targeted testing not possible v1.47 RARS2 Ivone Leong Source NHS GMS was added to RARS2.
Source London North GLH was added to RARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 RANBP2 Ivone Leong Source NHS GMS was added to RANBP2.
Source London North GLH was added to RANBP2.
Likely inborn error of metabolism - targeted testing not possible v1.47 QDPR Ivone Leong Source NHS GMS was added to QDPR.
Source London North GLH was added to QDPR.
Likely inborn error of metabolism - targeted testing not possible v1.47 PYGM Ivone Leong Source NHS GMS was added to PYGM.
Source London North GLH was added to PYGM.
Likely inborn error of metabolism - targeted testing not possible v1.47 PYGL Ivone Leong Source NHS GMS was added to PYGL.
Source London North GLH was added to PYGL.
Likely inborn error of metabolism - targeted testing not possible v1.47 PYCR1 Ivone Leong Source NHS GMS was added to PYCR1.
Source London North GLH was added to PYCR1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PUS1 Ivone Leong Source NHS GMS was added to PUS1.
Source London North GLH was added to PUS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PTS Ivone Leong Source NHS GMS was added to PTS.
Source London North GLH was added to PTS.
Likely inborn error of metabolism - targeted testing not possible v1.47 PTPRZ1 Ivone Leong Source NHS GMS was added to PTPRZ1.
Source London North GLH was added to PTPRZ1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PSPH Ivone Leong Source NHS GMS was added to PSPH.
Source London North GLH was added to PSPH.
Likely inborn error of metabolism - targeted testing not possible v1.47 PSAT1 Ivone Leong Source NHS GMS was added to PSAT1.
Source London North GLH was added to PSAT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PSAP Ivone Leong Source NHS GMS was added to PSAP.
Source London North GLH was added to PSAP.
Likely inborn error of metabolism - targeted testing not possible v1.47 PRPS1 Ivone Leong Source NHS GMS was added to PRPS1.
Source London North GLH was added to PRPS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PRODH Ivone Leong Source NHS GMS was added to PRODH.
Source London North GLH was added to PRODH.
Likely inborn error of metabolism - targeted testing not possible v1.47 PRKAG2 Ivone Leong Source NHS GMS was added to PRKAG2.
Source London North GLH was added to PRKAG2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PREPL Ivone Leong Source NHS GMS was added to PREPL.
Source London North GLH was added to PREPL.
Likely inborn error of metabolism - targeted testing not possible v1.47 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Source London North GLH was added to PPT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PPOX Ivone Leong Source NHS GMS was added to PPOX.
Source London North GLH was added to PPOX.
Likely inborn error of metabolism - targeted testing not possible v1.47 PPM1B Ivone Leong Source NHS GMS was added to PPM1B.
Source London North GLH was added to PPM1B.
Likely inborn error of metabolism - targeted testing not possible v1.47 POR Ivone Leong Source NHS GMS was added to POR.
Source London North GLH was added to POR.
Likely inborn error of metabolism - targeted testing not possible v1.47 POMT2 Ivone Leong Source NHS GMS was added to POMT2.
Source London North GLH was added to POMT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 POMT1 Ivone Leong Source NHS GMS was added to POMT1.
Source London North GLH was added to POMT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 POMGNT1 Ivone Leong Source NHS GMS was added to POMGNT1.
Source London North GLH was added to POMGNT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 POLG2 Ivone Leong Source NHS GMS was added to POLG2.
Source London North GLH was added to POLG2.
Likely inborn error of metabolism - targeted testing not possible v1.47 POLG Ivone Leong Source NHS GMS was added to POLG.
Source London North GLH was added to POLG.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNPT1 Ivone Leong Source NHS GMS was added to PNPT1.
Source London North GLH was added to PNPT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNPO Ivone Leong Source NHS GMS was added to PNPO.
Source London North GLH was added to PNPO.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNP Ivone Leong Source NHS GMS was added to PNP.
Source London North GLH was added to PNP.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNLIP Ivone Leong Source NHS GMS was added to PNLIP.
Source London North GLH was added to PNLIP.
Likely inborn error of metabolism - targeted testing not possible v1.47 PMM2 Ivone Leong Source NHS GMS was added to PMM2.
Source London North GLH was added to PMM2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PLA2G6 Ivone Leong Source NHS GMS was added to PLA2G6.
Source London North GLH was added to PLA2G6.
Likely inborn error of metabolism - targeted testing not possible v1.47 PINK1 Ivone Leong Source NHS GMS was added to PINK1.
Source London North GLH was added to PINK1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGV Ivone Leong Source NHS GMS was added to PIGV.
Source London North GLH was added to PIGV.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGO Ivone Leong Source NHS GMS was added to PIGO.
Source London North GLH was added to PIGO.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGN Ivone Leong Source NHS GMS was added to PIGN.
Source London North GLH was added to PIGN.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGM Ivone Leong Source NHS GMS was added to PIGM.
Source London North GLH was added to PIGM.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGL Ivone Leong Source NHS GMS was added to PIGL.
Source London North GLH was added to PIGL.
Likely inborn error of metabolism - targeted testing not possible v1.47 PIGA Ivone Leong Source NHS GMS was added to PIGA.
Source London North GLH was added to PIGA.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHYKPL Ivone Leong Source NHS GMS was added to PHYKPL.
Source London North GLH was added to PHYKPL.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Source London North GLH was added to PHYH.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHKG2 Ivone Leong Source NHS GMS was added to PHKG2.
Source London North GLH was added to PHKG2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHKB Ivone Leong Source NHS GMS was added to PHKB.
Source London North GLH was added to PHKB.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHKA2 Ivone Leong Source NHS GMS was added to PHKA2.
Source London North GLH was added to PHKA2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHKA1 Ivone Leong Source NHS GMS was added to PHKA1.
Source London North GLH was added to PHKA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PHGDH Ivone Leong Source NHS GMS was added to PHGDH.
Source London North GLH was added to PHGDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 PGM1 Ivone Leong Source NHS GMS was added to PGM1.
Source London North GLH was added to PGM1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PGK1 Ivone Leong Source NHS GMS was added to PGK1.
Source London North GLH was added to PGK1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PGAP2 Ivone Leong Source NHS GMS was added to PGAP2.
Source London North GLH was added to PGAP2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PGAM2 Ivone Leong Source NHS GMS was added to PGAM2.
Source London North GLH was added to PGAM2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PFKM Ivone Leong Source NHS GMS was added to PFKM.
Source London North GLH was added to PFKM.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Source London North GLH was added to PEX7.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX6 Ivone Leong Source NHS GMS was added to PEX6.
Source London North GLH was added to PEX6.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX5 Ivone Leong Source NHS GMS was added to PEX5.
Source London North GLH was added to PEX5.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX3 Ivone Leong Source NHS GMS was added to PEX3.
Source London North GLH was added to PEX3.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX26 Ivone Leong Source NHS GMS was added to PEX26.
Source London North GLH was added to PEX26.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX2 Ivone Leong Source NHS GMS was added to PEX2.
Source London North GLH was added to PEX2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX19 Ivone Leong Source NHS GMS was added to PEX19.
Source London North GLH was added to PEX19.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX16 Ivone Leong Source NHS GMS was added to PEX16.
Source London North GLH was added to PEX16.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX14 Ivone Leong Source NHS GMS was added to PEX14.
Source London North GLH was added to PEX14.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX13 Ivone Leong Source NHS GMS was added to PEX13.
Source London North GLH was added to PEX13.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX12 Ivone Leong Source NHS GMS was added to PEX12.
Source London North GLH was added to PEX12.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX10 Ivone Leong Source NHS GMS was added to PEX10.
Source London North GLH was added to PEX10.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEX1 Ivone Leong Source NHS GMS was added to PEX1.
Source London North GLH was added to PEX1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PEPD Ivone Leong Source NHS GMS was added to PEPD.
Source London North GLH was added to PEPD.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDXK Ivone Leong Source NHS GMS was added to PDXK.
Source London North GLH was added to PDXK.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDSS2 Ivone Leong Source NHS GMS was added to PDSS2.
Source London North GLH was added to PDSS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDSS1 Ivone Leong Source NHS GMS was added to PDSS1.
Source London North GLH was added to PDSS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDPR Ivone Leong Source NHS GMS was added to PDPR.
Source London North GLH was added to PDPR.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDP2 Ivone Leong Source NHS GMS was added to PDP2.
Source London North GLH was added to PDP2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDP1 Ivone Leong Source NHS GMS was added to PDP1.
Source London North GLH was added to PDP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDK4 Ivone Leong Source NHS GMS was added to PDK4.
Source London North GLH was added to PDK4.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDK3 Ivone Leong Source NHS GMS was added to PDK3.
Source London North GLH was added to PDK3.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDK2 Ivone Leong Source NHS GMS was added to PDK2.
Source London North GLH was added to PDK2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDK1 Ivone Leong Source NHS GMS was added to PDK1.
Source London North GLH was added to PDK1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDHX Ivone Leong Source NHS GMS was added to PDHX.
Source London North GLH was added to PDHX.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDHB Ivone Leong Source NHS GMS was added to PDHB.
Source London North GLH was added to PDHB.
Likely inborn error of metabolism - targeted testing not possible v1.47 PDHA1 Ivone Leong Source NHS GMS was added to PDHA1.
Source London North GLH was added to PDHA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PCSK9 Ivone Leong Source NHS GMS was added to PCSK9.
Source London North GLH was added to PCSK9.
Likely inborn error of metabolism - targeted testing not possible v1.47 PCK1 Ivone Leong Source NHS GMS was added to PCK1.
Source London North GLH was added to PCK1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PCCB Ivone Leong Source NHS GMS was added to PCCB.
Source London North GLH was added to PCCB.
Likely inborn error of metabolism - targeted testing not possible v1.47 PCCA Ivone Leong Source NHS GMS was added to PCCA.
Source London North GLH was added to PCCA.
Likely inborn error of metabolism - targeted testing not possible v1.47 PCBD1 Ivone Leong Source NHS GMS was added to PCBD1.
Source London North GLH was added to PCBD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PC Ivone Leong Source NHS GMS was added to PC.
Source London North GLH was added to PC.
Likely inborn error of metabolism - targeted testing not possible v1.47 PANK2 Ivone Leong Source NHS GMS was added to PANK2.
Source London North GLH was added to PANK2.
Likely inborn error of metabolism - targeted testing not possible v1.47 PAH Ivone Leong Source NHS GMS was added to PAH.
Source London North GLH was added to PAH.
Likely inborn error of metabolism - targeted testing not possible v1.47 OXCT1 Ivone Leong Source NHS GMS was added to OXCT1.
Source London North GLH was added to OXCT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 OTC Ivone Leong Source NHS GMS was added to OTC.
Source London North GLH was added to OTC.
Likely inborn error of metabolism - targeted testing not possible v1.47 OPLAH Ivone Leong Source NHS GMS was added to OPLAH.
Source London North GLH was added to OPLAH.
Likely inborn error of metabolism - targeted testing not possible v1.47 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Source London North GLH was added to OPA3.
Likely inborn error of metabolism - targeted testing not possible v1.47 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Source London North GLH was added to OPA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 OGDH Ivone Leong Source NHS GMS was added to OGDH.
Source London North GLH was added to OGDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 OCRL Ivone Leong Source NHS GMS was added to OCRL.
Source London North GLH was added to OCRL.
Likely inborn error of metabolism - targeted testing not possible v1.47 OAT Ivone Leong Source NHS GMS was added to OAT.
Source London North GLH was added to OAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 NUP62 Ivone Leong Source NHS GMS was added to NUP62.
Source London North GLH was added to NUP62.
Likely inborn error of metabolism - targeted testing not possible v1.47 NUBPL Ivone Leong Source NHS GMS was added to NUBPL.
Source London North GLH was added to NUBPL.
Likely inborn error of metabolism - targeted testing not possible v1.47 NT5C3A Ivone Leong Source NHS GMS was added to NT5C3A.
Source London North GLH was added to NT5C3A.
Likely inborn error of metabolism - targeted testing not possible v1.47 NT5C Ivone Leong Source NHS GMS was added to NT5C.
Source London North GLH was added to NT5C.
Likely inborn error of metabolism - targeted testing not possible v1.47 NSDHL Ivone Leong Source NHS GMS was added to NSDHL.
Source London North GLH was added to NSDHL.
Likely inborn error of metabolism - targeted testing not possible v1.47 NPC2 Ivone Leong Source NHS GMS was added to NPC2.
Source London North GLH was added to NPC2.
Likely inborn error of metabolism - targeted testing not possible v1.47 NPC1 Ivone Leong Source NHS GMS was added to NPC1.
Source London North GLH was added to NPC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NHLRC1 Ivone Leong Source NHS GMS was added to NHLRC1.
Source London North GLH was added to NHLRC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NFU1 Ivone Leong Source NHS GMS was added to NFU1.
Source London North GLH was added to NFU1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NEU1 Ivone Leong Source NHS GMS was added to NEU1.
Source London North GLH was added to NEU1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFV2 Ivone Leong Source NHS GMS was added to NDUFV2.
Source London North GLH was added to NDUFV2.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFV1 Ivone Leong Source NHS GMS was added to NDUFV1.
Source London North GLH was added to NDUFV1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS8 Ivone Leong Source NHS GMS was added to NDUFS8.
Source London North GLH was added to NDUFS8.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS7 Ivone Leong Source NHS GMS was added to NDUFS7.
Source London North GLH was added to NDUFS7.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS6 Ivone Leong Source NHS GMS was added to NDUFS6.
Source London North GLH was added to NDUFS6.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS4 Ivone Leong Source NHS GMS was added to NDUFS4.
Source London North GLH was added to NDUFS4.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS3 Ivone Leong Source NHS GMS was added to NDUFS3.
Source London North GLH was added to NDUFS3.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS2 Ivone Leong Source NHS GMS was added to NDUFS2.
Source London North GLH was added to NDUFS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFS1 Ivone Leong Source NHS GMS was added to NDUFS1.
Source London North GLH was added to NDUFS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFB9 Ivone Leong Source NHS GMS was added to NDUFB9.
Source London North GLH was added to NDUFB9.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFB3 Ivone Leong Source NHS GMS was added to NDUFB3.
Source London North GLH was added to NDUFB3.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF6 Ivone Leong Source NHS GMS was added to NDUFAF6.
Source London North GLH was added to NDUFAF6.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF5 Ivone Leong Source NHS GMS was added to NDUFAF5.
Source London North GLH was added to NDUFAF5.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF4 Ivone Leong Source NHS GMS was added to NDUFAF4.
Source London North GLH was added to NDUFAF4.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF3 Ivone Leong Source NHS GMS was added to NDUFAF3.
Source London North GLH was added to NDUFAF3.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF2 Ivone Leong Source NHS GMS was added to NDUFAF2.
Source London North GLH was added to NDUFAF2.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFAF1 Ivone Leong Source NHS GMS was added to NDUFAF1.
Source London North GLH was added to NDUFAF1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA9 Ivone Leong Source NHS GMS was added to NDUFA9.
Source London North GLH was added to NDUFA9.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA2 Ivone Leong Source NHS GMS was added to NDUFA2.
Source London North GLH was added to NDUFA2.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA12 Ivone Leong Source NHS GMS was added to NDUFA12.
Source London North GLH was added to NDUFA12.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA11 Ivone Leong Source NHS GMS was added to NDUFA11.
Source London North GLH was added to NDUFA11.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA10 Ivone Leong Source NHS GMS was added to NDUFA10.
Source London North GLH was added to NDUFA10.
Likely inborn error of metabolism - targeted testing not possible v1.47 NDUFA1 Ivone Leong Source NHS GMS was added to NDUFA1.
Source London North GLH was added to NDUFA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 NAGS Ivone Leong Source NHS GMS was added to NAGS.
Source London North GLH was added to NAGS.
Likely inborn error of metabolism - targeted testing not possible v1.47 NAGLU Ivone Leong Source NHS GMS was added to NAGLU.
Source London North GLH was added to NAGLU.
Likely inborn error of metabolism - targeted testing not possible v1.47 NAGA Ivone Leong Source NHS GMS was added to NAGA.
Source London North GLH was added to NAGA.
Likely inborn error of metabolism - targeted testing not possible v1.47 MVK Ivone Leong Source NHS GMS was added to MVK.
Source London North GLH was added to MVK.
Likely inborn error of metabolism - targeted testing not possible v1.47 MUT Ivone Leong Source NHS GMS was added to MUT.
Source London North GLH was added to MUT.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Source London North GLH was added to MTTP.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTRR Ivone Leong Source NHS GMS was added to MTRR.
Source London North GLH was added to MTRR.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTR Ivone Leong Source NHS GMS was added to MTR.
Source London North GLH was added to MTR.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTPAP Ivone Leong Source NHS GMS was added to MTPAP.
Source London North GLH was added to MTPAP.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTO1 Ivone Leong Source NHS GMS was added to MTO1.
Source London North GLH was added to MTO1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTHFR Ivone Leong Source NHS GMS was added to MTHFR.
Source London North GLH was added to MTHFR.
Likely inborn error of metabolism - targeted testing not possible v1.47 MTFMT Ivone Leong Source NHS GMS was added to MTFMT.
Source London North GLH was added to MTFMT.
Likely inborn error of metabolism - targeted testing not possible v1.47 MSMO1 Ivone Leong Source NHS GMS was added to MSMO1.
Source London North GLH was added to MSMO1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MRPS22 Ivone Leong Source NHS GMS was added to MRPS22.
Source London North GLH was added to MRPS22.
Likely inborn error of metabolism - targeted testing not possible v1.47 MRPS16 Ivone Leong Source NHS GMS was added to MRPS16.
Source London North GLH was added to MRPS16.
Likely inborn error of metabolism - targeted testing not possible v1.47 MRPL3 Ivone Leong Source NHS GMS was added to MRPL3.
Source London North GLH was added to MRPL3.
Likely inborn error of metabolism - targeted testing not possible v1.47 MPV17 Ivone Leong Source NHS GMS was added to MPV17.
Source London North GLH was added to MPV17.
Likely inborn error of metabolism - targeted testing not possible v1.47 MPI Ivone Leong Source NHS GMS was added to MPI.
Source London North GLH was added to MPI.
Likely inborn error of metabolism - targeted testing not possible v1.47 MPDU1 Ivone Leong Source NHS GMS was added to MPDU1.
Source London North GLH was added to MPDU1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MOGS Ivone Leong Source NHS GMS was added to MOGS.
Source London North GLH was added to MOGS.
Likely inborn error of metabolism - targeted testing not possible v1.47 MOCS2 Ivone Leong Source NHS GMS was added to MOCS2.
Source London North GLH was added to MOCS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 MOCS1 Ivone Leong Source NHS GMS was added to MOCS1.
Source London North GLH was added to MOCS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MMADHC Ivone Leong Source NHS GMS was added to MMADHC.
Source London North GLH was added to MMADHC.
Likely inborn error of metabolism - targeted testing not possible v1.47 MMACHC Ivone Leong Source NHS GMS was added to MMACHC.
Source London North GLH was added to MMACHC.
Likely inborn error of metabolism - targeted testing not possible v1.47 MMAB Ivone Leong Source NHS GMS was added to MMAB.
Source London North GLH was added to MMAB.
Likely inborn error of metabolism - targeted testing not possible v1.47 MMAA Ivone Leong Source NHS GMS was added to MMAA.
Source London North GLH was added to MMAA.
Likely inborn error of metabolism - targeted testing not possible v1.47 MLYCD Ivone Leong Source NHS GMS was added to MLYCD.
Source London North GLH was added to MLYCD.
Likely inborn error of metabolism - targeted testing not possible v1.47 MGAT2 Ivone Leong Source NHS GMS was added to MGAT2.
Source London North GLH was added to MGAT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Source London North GLH was added to MFSD8.
Likely inborn error of metabolism - targeted testing not possible v1.47 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Source London North GLH was added to MFN2.
Likely inborn error of metabolism - targeted testing not possible v1.47 MFF Ivone Leong Source NHS GMS was added to MFF.
Source London North GLH was added to MFF.
Likely inborn error of metabolism - targeted testing not possible v1.47 MCOLN1 Ivone Leong Source NHS GMS was added to MCOLN1.
Source London North GLH was added to MCOLN1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MCEE Ivone Leong Source NHS GMS was added to MCEE.
Source London North GLH was added to MCEE.
Likely inborn error of metabolism - targeted testing not possible v1.47 MCCC2 Ivone Leong Source NHS GMS was added to MCCC2.
Source London North GLH was added to MCCC2.
Likely inborn error of metabolism - targeted testing not possible v1.47 MCCC1 Ivone Leong Source NHS GMS was added to MCCC1.
Source London North GLH was added to MCCC1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MAT1A Ivone Leong Source NHS GMS was added to MAT1A.
Source London North GLH was added to MAT1A.
Likely inborn error of metabolism - targeted testing not possible v1.47 MARS2 Ivone Leong Source NHS GMS was added to MARS2.
Source London North GLH was added to MARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 MAOA Ivone Leong Source NHS GMS was added to MAOA.
Source London North GLH was added to MAOA.
Likely inborn error of metabolism - targeted testing not possible v1.47 MANBA Ivone Leong Source NHS GMS was added to MANBA.
Source London North GLH was added to MANBA.
Likely inborn error of metabolism - targeted testing not possible v1.47 MAN2B1 Ivone Leong Source NHS GMS was added to MAN2B1.
Source London North GLH was added to MAN2B1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MAN1B1 Ivone Leong Source NHS GMS was added to MAN1B1.
Source London North GLH was added to MAN1B1.
Likely inborn error of metabolism - targeted testing not possible v1.47 MAGT1 Ivone Leong Source NHS GMS was added to MAGT1.
Source London North GLH was added to MAGT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 LRPPRC Ivone Leong Source NHS GMS was added to LRPPRC.
Source London North GLH was added to LRPPRC.
Likely inborn error of metabolism - targeted testing not possible v1.47 LPL Ivone Leong Source NHS GMS was added to LPL.
Source London North GLH was added to LPL.
Likely inborn error of metabolism - targeted testing not possible v1.47 LPIN1 Ivone Leong Source NHS GMS was added to LPIN1.
Source London North GLH was added to LPIN1.
Likely inborn error of metabolism - targeted testing not possible v1.47 LMBRD1 Ivone Leong Source NHS GMS was added to LMBRD1.
Source London North GLH was added to LMBRD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 LIPI Ivone Leong Source NHS GMS was added to LIPI.
Source London North GLH was added to LIPI.
Likely inborn error of metabolism - targeted testing not possible v1.47 LIPC Ivone Leong Source NHS GMS was added to LIPC.
Source London North GLH was added to LIPC.
Likely inborn error of metabolism - targeted testing not possible v1.47 LIPA Ivone Leong Source NHS GMS was added to LIPA.
Source London North GLH was added to LIPA.
Likely inborn error of metabolism - targeted testing not possible v1.47 LIAS Ivone Leong Source NHS GMS was added to LIAS.
Source London North GLH was added to LIAS.
Likely inborn error of metabolism - targeted testing not possible v1.47 LFNG Ivone Leong Source NHS GMS was added to LFNG.
Source London North GLH was added to LFNG.
Likely inborn error of metabolism - targeted testing not possible v1.47 LDLRAP1 Ivone Leong Source NHS GMS was added to LDLRAP1.
Source London North GLH was added to LDLRAP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 LDLR Ivone Leong Source NHS GMS was added to LDLR.
Source London North GLH was added to LDLR.
Likely inborn error of metabolism - targeted testing not possible v1.47 LDHA Ivone Leong Source NHS GMS was added to LDHA.
Source London North GLH was added to LDHA.
Likely inborn error of metabolism - targeted testing not possible v1.47 LCT Ivone Leong Source NHS GMS was added to LCT.
Source London North GLH was added to LCT.
Likely inborn error of metabolism - targeted testing not possible v1.47 LCAT Ivone Leong Source NHS GMS was added to LCAT.
Source London North GLH was added to LCAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 LBR Ivone Leong Source NHS GMS was added to LBR.
Source London North GLH was added to LBR.
Likely inborn error of metabolism - targeted testing not possible v1.47 LARS2 Ivone Leong Source NHS GMS was added to LARS2.
Source London North GLH was added to LARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 LARGE1 Ivone Leong Source NHS GMS was added to LARGE1.
Source London North GLH was added to LARGE1.
Likely inborn error of metabolism - targeted testing not possible v1.47 LAMP2 Ivone Leong Source NHS GMS was added to LAMP2.
Source London North GLH was added to LAMP2.
Likely inborn error of metabolism - targeted testing not possible v1.47 L2HGDH Ivone Leong Source NHS GMS was added to L2HGDH.
Source London North GLH was added to L2HGDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 KYNU Ivone Leong Source NHS GMS was added to KYNU.
Source London North GLH was added to KYNU.
Likely inborn error of metabolism - targeted testing not possible v1.47 KHK Ivone Leong Source NHS GMS was added to KHK.
Source London North GLH was added to KHK.
Likely inborn error of metabolism - targeted testing not possible v1.47 KARS Ivone Leong Source NHS GMS was added to KARS.
Source London North GLH was added to KARS.
Likely inborn error of metabolism - targeted testing not possible v1.47 IVD Ivone Leong Source NHS GMS was added to IVD.
Source London North GLH was added to IVD.
Likely inborn error of metabolism - targeted testing not possible v1.47 ITPA Ivone Leong Source NHS GMS was added to ITPA.
Source London North GLH was added to ITPA.
Likely inborn error of metabolism - targeted testing not possible v1.47 ISCU Ivone Leong Source NHS GMS was added to ISCU.
Source London North GLH was added to ISCU.
Likely inborn error of metabolism - targeted testing not possible v1.47 IDUA Ivone Leong Source NHS GMS was added to IDUA.
Source London North GLH was added to IDUA.
Likely inborn error of metabolism - targeted testing not possible v1.47 IDS Ivone Leong Source NHS GMS was added to IDS.
Source London North GLH was added to IDS.
Likely inborn error of metabolism - targeted testing not possible v1.47 IDH2 Ivone Leong Source NHS GMS was added to IDH2.
Source London North GLH was added to IDH2.
Likely inborn error of metabolism - targeted testing not possible v1.47 IARS2 Ivone Leong Source NHS GMS was added to IARS2.
Source London North GLH was added to IARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 HYKK Ivone Leong Source NHS GMS was added to HYKK.
Source London North GLH was added to HYKK.
Likely inborn error of metabolism - targeted testing not possible v1.47 HYAL1 Ivone Leong Source NHS GMS was added to HYAL1.
Source London North GLH was added to HYAL1.
Likely inborn error of metabolism - targeted testing not possible v1.47 HSPD1 Ivone Leong Source NHS GMS was added to HSPD1.
Source London North GLH was added to HSPD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 HSD3B7 Ivone Leong Source NHS GMS was added to HSD3B7.
Source London North GLH was added to HSD3B7.
Likely inborn error of metabolism - targeted testing not possible v1.47 HSD17B4 Ivone Leong Source NHS GMS was added to HSD17B4.
Source London North GLH was added to HSD17B4.
Likely inborn error of metabolism - targeted testing not possible v1.47 HSD17B10 Ivone Leong Source NHS GMS was added to HSD17B10.
Source London North GLH was added to HSD17B10.
Likely inborn error of metabolism - targeted testing not possible v1.47 HPS1 Ivone Leong Source NHS GMS was added to HPS1.
Source London North GLH was added to HPS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 HPRT1 Ivone Leong Source NHS GMS was added to HPRT1.
Source London North GLH was added to HPRT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 HPD Ivone Leong Source NHS GMS was added to HPD.
Source London North GLH was added to HPD.
Likely inborn error of metabolism - targeted testing not possible v1.47 HOGA1 Ivone Leong Source NHS GMS was added to HOGA1.
Source London North GLH was added to HOGA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 HMGCS2 Ivone Leong Source NHS GMS was added to HMGCS2.
Source London North GLH was added to HMGCS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 HMGCL Ivone Leong Source NHS GMS was added to HMGCL.
Source London North GLH was added to HMGCL.
Likely inborn error of metabolism - targeted testing not possible v1.47 HMBS Ivone Leong Source NHS GMS was added to HMBS.
Source London North GLH was added to HMBS.
Likely inborn error of metabolism - targeted testing not possible v1.47 HLCS Ivone Leong Source NHS GMS was added to HLCS.
Source London North GLH was added to HLCS.
Likely inborn error of metabolism - targeted testing not possible v1.47 HIBCH Ivone Leong Source NHS GMS was added to HIBCH.
Source London North GLH was added to HIBCH.
Likely inborn error of metabolism - targeted testing not possible v1.47 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Source London North GLH was added to HGSNAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 HGD Ivone Leong Source NHS GMS was added to HGD.
Source London North GLH was added to HGD.
Likely inborn error of metabolism - targeted testing not possible v1.47 HFE2 Ivone Leong Source NHS GMS was added to HFE2.
Source London North GLH was added to HFE2.
Likely inborn error of metabolism - targeted testing not possible v1.47 HFE Ivone Leong Source NHS GMS was added to HFE.
Source London North GLH was added to HFE.
Likely inborn error of metabolism - targeted testing not possible v1.47 HEXB Ivone Leong Source NHS GMS was added to HEXB.
Source London North GLH was added to HEXB.
Likely inborn error of metabolism - targeted testing not possible v1.47 HEXA Ivone Leong Source NHS GMS was added to HEXA.
Source London North GLH was added to HEXA.
Likely inborn error of metabolism - targeted testing not possible v1.47 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Source London North GLH was added to HCCS.
Likely inborn error of metabolism - targeted testing not possible v1.47 HARS2 Ivone Leong Source NHS GMS was added to HARS2.
Source London North GLH was added to HARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 HAMP Ivone Leong Source NHS GMS was added to HAMP.
Source London North GLH was added to HAMP.
Likely inborn error of metabolism - targeted testing not possible v1.47 HAL Ivone Leong Source NHS GMS was added to HAL.
Source London North GLH was added to HAL.
Likely inborn error of metabolism - targeted testing not possible v1.47 HADHB Ivone Leong Source NHS GMS was added to HADHB.
Source London North GLH was added to HADHB.
Likely inborn error of metabolism - targeted testing not possible v1.47 HADHA Ivone Leong Source NHS GMS was added to HADHA.
Source London North GLH was added to HADHA.
Likely inborn error of metabolism - targeted testing not possible v1.47 HADH Ivone Leong Source NHS GMS was added to HADH.
Source London North GLH was added to HADH.
Likely inborn error of metabolism - targeted testing not possible v1.47 GYS2 Ivone Leong Source NHS GMS was added to GYS2.
Source London North GLH was added to GYS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 GYS1 Ivone Leong Source NHS GMS was added to GYS1.
Source London North GLH was added to GYS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GYG1 Ivone Leong Source NHS GMS was added to GYG1.
Source London North GLH was added to GYG1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GUSB Ivone Leong Source NHS GMS was added to GUSB.
Source London North GLH was added to GUSB.
Likely inborn error of metabolism - targeted testing not possible v1.47 GSS Ivone Leong Source NHS GMS was added to GSS.
Source London North GLH was added to GSS.
Likely inborn error of metabolism - targeted testing not possible v1.47 GRHPR Ivone Leong Source NHS GMS was added to GRHPR.
Source London North GLH was added to GRHPR.
Likely inborn error of metabolism - targeted testing not possible v1.47 GPHN Ivone Leong Source NHS GMS was added to GPHN.
Source London North GLH was added to GPHN.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNS Ivone Leong Source NHS GMS was added to GNS.
Source London North GLH was added to GNS.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Source London North GLH was added to GNPTG.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNPTAB Ivone Leong Source NHS GMS was added to GNPTAB.
Source London North GLH was added to GNPTAB.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNPAT Ivone Leong Source NHS GMS was added to GNPAT.
Source London North GLH was added to GNPAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNMT Ivone Leong Source NHS GMS was added to GNMT.
Source London North GLH was added to GNMT.
Likely inborn error of metabolism - targeted testing not possible v1.47 GNE Ivone Leong Source NHS GMS was added to GNE.
Source London North GLH was added to GNE.
Likely inborn error of metabolism - targeted testing not possible v1.47 GM2A Ivone Leong Source NHS GMS was added to GM2A.
Source London North GLH was added to GM2A.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLYCTK Ivone Leong Source NHS GMS was added to GLYCTK.
Source London North GLH was added to GLYCTK.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLUL Ivone Leong Source NHS GMS was added to GLUL.
Source London North GLH was added to GLUL.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLUD1 Ivone Leong Source NHS GMS was added to GLUD1.
Source London North GLH was added to GLUD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLS Ivone Leong Source NHS GMS was added to GLS.
Source London North GLH was added to GLS.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLRX5 Ivone Leong Source NHS GMS was added to GLRX5.
Source London North GLH was added to GLRX5.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLDC Ivone Leong Source NHS GMS was added to GLDC.
Source London North GLH was added to GLDC.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Source London North GLH was added to GLB1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GLA Ivone Leong Source NHS GMS was added to GLA.
Source London North GLH was added to GLA.
Likely inborn error of metabolism - targeted testing not possible v1.47 GK Ivone Leong Source NHS GMS was added to GK.
Source London North GLH was added to GK.
Likely inborn error of metabolism - targeted testing not possible v1.47 GIF Ivone Leong Source NHS GMS was added to GIF.
Source London North GLH was added to GIF.
Likely inborn error of metabolism - targeted testing not possible v1.47 GGT1 Ivone Leong Source NHS GMS was added to GGT1.
Source London North GLH was added to GGT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GFPT1 Ivone Leong Source NHS GMS was added to GFPT1.
Source London North GLH was added to GFPT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GFM1 Ivone Leong Source NHS GMS was added to GFM1.
Source London North GLH was added to GFM1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GFER Ivone Leong Source NHS GMS was added to GFER.
Source London North GLH was added to GFER.
Likely inborn error of metabolism - targeted testing not possible v1.47 GCSH Ivone Leong Source NHS GMS was added to GCSH.
Source London North GLH was added to GCSH.
Likely inborn error of metabolism - targeted testing not possible v1.47 GCLC Ivone Leong Source NHS GMS was added to GCLC.
Source London North GLH was added to GCLC.
Likely inborn error of metabolism - targeted testing not possible v1.47 GCH1 Ivone Leong Source NHS GMS was added to GCH1.
Source London North GLH was added to GCH1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GCDH Ivone Leong Source NHS GMS was added to GCDH.
Source London North GLH was added to GCDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 GBE1 Ivone Leong Source NHS GMS was added to GBE1.
Source London North GLH was added to GBE1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GBA Ivone Leong Source NHS GMS was added to GBA.
Source London North GLH was added to GBA.
Likely inborn error of metabolism - targeted testing not possible v1.47 GATM Ivone Leong Source NHS GMS was added to GATM.
Source London North GLH was added to GATM.
Likely inborn error of metabolism - targeted testing not possible v1.47 GAMT Ivone Leong Source NHS GMS was added to GAMT.
Source London North GLH was added to GAMT.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALT Ivone Leong Source NHS GMS was added to GALT.
Source London North GLH was added to GALT.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALNT3 Ivone Leong Source NHS GMS was added to GALNT3.
Source London North GLH was added to GALNT3.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALNT12 Ivone Leong Source NHS GMS was added to GALNT12.
Source London North GLH was added to GALNT12.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALNS Ivone Leong Source NHS GMS was added to GALNS.
Source London North GLH was added to GALNS.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALK1 Ivone Leong Source NHS GMS was added to GALK1.
Source London North GLH was added to GALK1.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALE Ivone Leong Source NHS GMS was added to GALE.
Source London North GLH was added to GALE.
Likely inborn error of metabolism - targeted testing not possible v1.47 GALC Ivone Leong Source NHS GMS was added to GALC.
Source London North GLH was added to GALC.
Likely inborn error of metabolism - targeted testing not possible v1.47 GAA Ivone Leong Source NHS GMS was added to GAA.
Source London North GLH was added to GAA.
Likely inborn error of metabolism - targeted testing not possible v1.47 G6PC3 Ivone Leong Source NHS GMS was added to G6PC3.
Source London North GLH was added to G6PC3.
Likely inborn error of metabolism - targeted testing not possible v1.47 G6PC Ivone Leong Source NHS GMS was added to G6PC.
Source London North GLH was added to G6PC.
Likely inborn error of metabolism - targeted testing not possible v1.47 FXYD2 Ivone Leong Source NHS GMS was added to FXYD2.
Source London North GLH was added to FXYD2.
Likely inborn error of metabolism - targeted testing not possible v1.47 FXN Ivone Leong Source NHS GMS was added to FXN.
Source London North GLH was added to FXN.
Likely inborn error of metabolism - targeted testing not possible v1.47 FUCA1 Ivone Leong Source NHS GMS was added to FUCA1.
Source London North GLH was added to FUCA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 FTCD Ivone Leong Source NHS GMS was added to FTCD.
Source London North GLH was added to FTCD.
Likely inborn error of metabolism - targeted testing not possible v1.47 FOXRED1 Ivone Leong Source NHS GMS was added to FOXRED1.
Source London North GLH was added to FOXRED1.
Likely inborn error of metabolism - targeted testing not possible v1.47 FOLR1 Ivone Leong Source NHS GMS was added to FOLR1.
Source London North GLH was added to FOLR1.
Likely inborn error of metabolism - targeted testing not possible v1.47 FMO3 Ivone Leong Source NHS GMS was added to FMO3.
Source London North GLH was added to FMO3.
Likely inborn error of metabolism - targeted testing not possible v1.47 FKTN Ivone Leong Source NHS GMS was added to FKTN.
Source London North GLH was added to FKTN.
Likely inborn error of metabolism - targeted testing not possible v1.47 FKRP Ivone Leong Source NHS GMS was added to FKRP.
Source London North GLH was added to FKRP.
Likely inborn error of metabolism - targeted testing not possible v1.47 FH Ivone Leong Source NHS GMS was added to FH.
Source London North GLH was added to FH.
Likely inborn error of metabolism - targeted testing not possible v1.47 FGFR2 Ivone Leong Source NHS GMS was added to FGFR2.
Source London North GLH was added to FGFR2.
Likely inborn error of metabolism - targeted testing not possible v1.47 FECH Ivone Leong Source NHS GMS was added to FECH.
Source London North GLH was added to FECH.
Likely inborn error of metabolism - targeted testing not possible v1.47 FBP1 Ivone Leong Source NHS GMS was added to FBP1.
Source London North GLH was added to FBP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 FASTKD2 Ivone Leong Source NHS GMS was added to FASTKD2.
Source London North GLH was added to FASTKD2.
Likely inborn error of metabolism - targeted testing not possible v1.47 FARS2 Ivone Leong Source NHS GMS was added to FARS2.
Source London North GLH was added to FARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 FAH Ivone Leong Source NHS GMS was added to FAH.
Source London North GLH was added to FAH.
Likely inborn error of metabolism - targeted testing not possible v1.47 FA2H Ivone Leong Source NHS GMS was added to FA2H.
Source London North GLH was added to FA2H.
Likely inborn error of metabolism - targeted testing not possible v1.47 EXT2 Ivone Leong Source NHS GMS was added to EXT2.
Source London North GLH was added to EXT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 EXT1 Ivone Leong Source NHS GMS was added to EXT1.
Source London North GLH was added to EXT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ETHE1 Ivone Leong Source NHS GMS was added to ETHE1.
Source London North GLH was added to ETHE1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ETFDH Ivone Leong Source NHS GMS was added to ETFDH.
Source London North GLH was added to ETFDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 ETFB Ivone Leong Source NHS GMS was added to ETFB.
Source London North GLH was added to ETFB.
Likely inborn error of metabolism - targeted testing not possible v1.47 ETFA Ivone Leong Source NHS GMS was added to ETFA.
Source London North GLH was added to ETFA.
Likely inborn error of metabolism - targeted testing not possible v1.47 EPM2A Ivone Leong Source NHS GMS was added to EPM2A.
Source London North GLH was added to EPM2A.
Likely inborn error of metabolism - targeted testing not possible v1.47 ENO3 Ivone Leong Source NHS GMS was added to ENO3.
Source London North GLH was added to ENO3.
Likely inborn error of metabolism - targeted testing not possible v1.47 EGF Ivone Leong Source NHS GMS was added to EGF.
Source London North GLH was added to EGF.
Likely inborn error of metabolism - targeted testing not possible v1.47 EBP Ivone Leong Source NHS GMS was added to EBP.
Source London North GLH was added to EBP.
Likely inborn error of metabolism - targeted testing not possible v1.47 EARS2 Ivone Leong Source NHS GMS was added to EARS2.
Source London North GLH was added to EARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPYS Ivone Leong Source NHS GMS was added to DPYS.
Source London North GLH was added to DPYS.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPYD Ivone Leong Source NHS GMS was added to DPYD.
Source London North GLH was added to DPYD.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPM3 Ivone Leong Source NHS GMS was added to DPM3.
Source London North GLH was added to DPM3.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPM1 Ivone Leong Source NHS GMS was added to DPM1.
Source London North GLH was added to DPM1.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPEP1 Ivone Leong Source NHS GMS was added to DPEP1.
Source London North GLH was added to DPEP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 DPAGT1 Ivone Leong Source NHS GMS was added to DPAGT1.
Source London North GLH was added to DPAGT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Source London North GLH was added to DOLK.
Likely inborn error of metabolism - targeted testing not possible v1.47 DNM1L Ivone Leong Source NHS GMS was added to DNM1L.
Source London North GLH was added to DNM1L.
Likely inborn error of metabolism - targeted testing not possible v1.47 DNAJC5 Ivone Leong Source NHS GMS was added to DNAJC5.
Source London North GLH was added to DNAJC5.
Likely inborn error of metabolism - targeted testing not possible v1.47 DNAJC19 Ivone Leong Source NHS GMS was added to DNAJC19.
Source London North GLH was added to DNAJC19.
Likely inborn error of metabolism - targeted testing not possible v1.47 DMGDH Ivone Leong Source NHS GMS was added to DMGDH.
Source London North GLH was added to DMGDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 DLST Ivone Leong Source NHS GMS was added to DLST.
Source London North GLH was added to DLST.
Likely inborn error of metabolism - targeted testing not possible v1.47 DLD Ivone Leong Source NHS GMS was added to DLD.
Source London North GLH was added to DLD.
Likely inborn error of metabolism - targeted testing not possible v1.47 DLAT Ivone Leong Source NHS GMS was added to DLAT.
Source London North GLH was added to DLAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHTKD1 Ivone Leong Source NHS GMS was added to DHTKD1.
Source London North GLH was added to DHTKD1.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHODH Ivone Leong Source NHS GMS was added to DHODH.
Source London North GLH was added to DHODH.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHFR Ivone Leong Source NHS GMS was added to DHFR.
Source London North GLH was added to DHFR.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Source London North GLH was added to DHDDS.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHCR7 Ivone Leong Source NHS GMS was added to DHCR7.
Source London North GLH was added to DHCR7.
Likely inborn error of metabolism - targeted testing not possible v1.47 DHCR24 Ivone Leong Source NHS GMS was added to DHCR24.
Source London North GLH was added to DHCR24.
Likely inborn error of metabolism - targeted testing not possible v1.47 DGUOK Ivone Leong Source NHS GMS was added to DGUOK.
Source London North GLH was added to DGUOK.
Likely inborn error of metabolism - targeted testing not possible v1.47 DDC Ivone Leong Source NHS GMS was added to DDC.
Source London North GLH was added to DDC.
Likely inborn error of metabolism - targeted testing not possible v1.47 DCXR Ivone Leong Source NHS GMS was added to DCXR.
Source London North GLH was added to DCXR.
Likely inborn error of metabolism - targeted testing not possible v1.47 DBT Ivone Leong Source NHS GMS was added to DBT.
Source London North GLH was added to DBT.
Likely inborn error of metabolism - targeted testing not possible v1.47 DBH Ivone Leong Source NHS GMS was added to DBH.
Source London North GLH was added to DBH.
Likely inborn error of metabolism - targeted testing not possible v1.47 DARS2 Ivone Leong Source NHS GMS was added to DARS2.
Source London North GLH was added to DARS2.
Likely inborn error of metabolism - targeted testing not possible v1.47 D2HGDH Ivone Leong Source NHS GMS was added to D2HGDH.
Source London North GLH was added to D2HGDH.
Likely inborn error of metabolism - targeted testing not possible v1.47 CYP7B1 Ivone Leong Source NHS GMS was added to CYP7B1.
Source London North GLH was added to CYP7B1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CYP7A1 Ivone Leong Source NHS GMS was added to CYP7A1.
Source London North GLH was added to CYP7A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Source London North GLH was added to CYP27A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CUBN Ivone Leong Source NHS GMS was added to CUBN.
Source London North GLH was added to CUBN.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTSK Ivone Leong Source NHS GMS was added to CTSK.
Source London North GLH was added to CTSK.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Source London North GLH was added to CTSD.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTSC Ivone Leong Source NHS GMS was added to CTSC.
Source London North GLH was added to CTSC.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTSA Ivone Leong Source NHS GMS was added to CTSA.
Source London North GLH was added to CTSA.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTNS Ivone Leong Source NHS GMS was added to CTNS.
Source London North GLH was added to CTNS.
Likely inborn error of metabolism - targeted testing not possible v1.47 CTH Ivone Leong Source NHS GMS was added to CTH.
Source London North GLH was added to CTH.
Likely inborn error of metabolism - targeted testing not possible v1.47 CSTB Ivone Leong Source NHS GMS was added to CSTB.
Source London North GLH was added to CSTB.
Likely inborn error of metabolism - targeted testing not possible v1.47 CPT2 Ivone Leong Source NHS GMS was added to CPT2.
Source London North GLH was added to CPT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 CPT1A Ivone Leong Source NHS GMS was added to CPT1A.
Source London North GLH was added to CPT1A.
Likely inborn error of metabolism - targeted testing not possible v1.47 CPS1 Ivone Leong Source NHS GMS was added to CPS1.
Source London North GLH was added to CPS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CPOX Ivone Leong Source NHS GMS was added to CPOX.
Source London North GLH was added to CPOX.
Likely inborn error of metabolism - targeted testing not possible v1.47 CP Ivone Leong Source NHS GMS was added to CP.
Source London North GLH was added to CP.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX7B Ivone Leong Source NHS GMS was added to COX7B.
Source London North GLH was added to COX7B.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX6B1 Ivone Leong Source NHS GMS was added to COX6B1.
Source London North GLH was added to COX6B1.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX4I2 Ivone Leong Source NHS GMS was added to COX4I2.
Source London North GLH was added to COX4I2.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX20 Ivone Leong Source NHS GMS was added to COX20.
Source London North GLH was added to COX20.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX15 Ivone Leong Source NHS GMS was added to COX15.
Source London North GLH was added to COX15.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX14 Ivone Leong Source NHS GMS was added to COX14.
Source London North GLH was added to COX14.
Likely inborn error of metabolism - targeted testing not possible v1.47 COX10 Ivone Leong Source NHS GMS was added to COX10.
Source London North GLH was added to COX10.
Likely inborn error of metabolism - targeted testing not possible v1.47 COQ9 Ivone Leong Source NHS GMS was added to COQ9.
Source London North GLH was added to COQ9.
Likely inborn error of metabolism - targeted testing not possible v1.47 COQ6 Ivone Leong Source NHS GMS was added to COQ6.
Source London North GLH was added to COQ6.
Likely inborn error of metabolism - targeted testing not possible v1.47 COQ4 Ivone Leong Source NHS GMS was added to COQ4.
Source London North GLH was added to COQ4.
Likely inborn error of metabolism - targeted testing not possible v1.47 COQ2 Ivone Leong Source NHS GMS was added to COQ2.
Source London North GLH was added to COQ2.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG8 Ivone Leong Source NHS GMS was added to COG8.
Source London North GLH was added to COG8.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG7 Ivone Leong Source NHS GMS was added to COG7.
Source London North GLH was added to COG7.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG6 Ivone Leong Source NHS GMS was added to COG6.
Source London North GLH was added to COG6.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG5 Ivone Leong Source NHS GMS was added to COG5.
Source London North GLH was added to COG5.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG4 Ivone Leong Source NHS GMS was added to COG4.
Source London North GLH was added to COG4.
Likely inborn error of metabolism - targeted testing not possible v1.47 COG1 Ivone Leong Source NHS GMS was added to COG1.
Source London North GLH was added to COG1.
Likely inborn error of metabolism - targeted testing not possible v1.47 COA5 Ivone Leong Source NHS GMS was added to COA5.
Source London North GLH was added to COA5.
Likely inborn error of metabolism - targeted testing not possible v1.47 CNNM2 Ivone Leong Source NHS GMS was added to CNNM2.
Source London North GLH was added to CNNM2.
Likely inborn error of metabolism - targeted testing not possible v1.47 CNDP1 Ivone Leong Source NHS GMS was added to CNDP1.
Source London North GLH was added to CNDP1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLPS Ivone Leong Source NHS GMS was added to CLPS.
Source London North GLH was added to CLPS.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Source London North GLH was added to CLN8.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Source London North GLH was added to CLN6.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Source London North GLH was added to CLN5.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Source London North GLH was added to CLN3.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLDN19 Ivone Leong Source NHS GMS was added to CLDN19.
Source London North GLH was added to CLDN19.
Likely inborn error of metabolism - targeted testing not possible v1.47 CLDN16 Ivone Leong Source NHS GMS was added to CLDN16.
Source London North GLH was added to CLDN16.
Likely inborn error of metabolism - targeted testing not possible v1.47 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Source London North GLH was added to CISD2.
Likely inborn error of metabolism - targeted testing not possible v1.47 CHSY1 Ivone Leong Source NHS GMS was added to CHSY1.
Source London North GLH was added to CHSY1.
Likely inborn error of metabolism - targeted testing not possible v1.47 CHST6 Ivone Leong Source NHS GMS was added to CHST6.
Source London North GLH was added to CHST6.
Likely inborn error of metabolism - targeted testing not possible v1.47 CHST3 Ivone Leong Source NHS GMS was added to CHST3.
Source London North GLH was added to CHST3.
Likely inborn error of metabolism - targeted testing not possible v1.47 CHST14 Ivone Leong Source NHS GMS was added to CHST14.
Source London North GLH was added to CHST14.
Likely inborn error of metabolism - targeted testing not possible v1.47 CHKB Ivone Leong Source NHS GMS was added to CHKB.
Source London North GLH was added to CHKB.
Likely inborn error of metabolism - targeted testing not possible v1.47 CETP Ivone Leong Source NHS GMS was added to CETP.
Source London North GLH was added to CETP.
Likely inborn error of metabolism - targeted testing not possible v1.47 CD320 Ivone Leong Source NHS GMS was added to CD320.
Source London North GLH was added to CD320.
Likely inborn error of metabolism - targeted testing not possible v1.47 CBS Ivone Leong Source NHS GMS was added to CBS.
Source London North GLH was added to CBS.
Likely inborn error of metabolism - targeted testing not possible v1.47 CAT Ivone Leong Source NHS GMS was added to CAT.
Source London North GLH was added to CAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 CA5A Ivone Leong Source NHS GMS was added to CA5A.
Source London North GLH was added to CA5A.
Likely inborn error of metabolism - targeted testing not possible v1.47 C1GALT1C1 Ivone Leong Source NHS GMS was added to C1GALT1C1.
Source London North GLH was added to C1GALT1C1.
Likely inborn error of metabolism - targeted testing not possible v1.47 C19orf12 Ivone Leong Source NHS GMS was added to C19orf12.
Source London North GLH was added to C19orf12.
Likely inborn error of metabolism - targeted testing not possible v1.47 C12orf65 Ivone Leong Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65.
Likely inborn error of metabolism - targeted testing not possible v1.47 TWNK Ivone Leong Source NHS GMS was added to TWNK.
Source London North GLH was added to TWNK.
Likely inborn error of metabolism - targeted testing not possible v1.47 BTD Ivone Leong Source NHS GMS was added to BTD.
Source London North GLH was added to BTD.
Likely inborn error of metabolism - targeted testing not possible v1.47 BOLA3 Ivone Leong Source NHS GMS was added to BOLA3.
Source London North GLH was added to BOLA3.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCS1L Ivone Leong Source NHS GMS was added to BCS1L.
Source London North GLH was added to BCS1L.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCKDHB Ivone Leong Source NHS GMS was added to BCKDHB.
Source London North GLH was added to BCKDHB.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCKDHA Ivone Leong Source NHS GMS was added to BCKDHA.
Source London North GLH was added to BCKDHA.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCAT2 Ivone Leong Source NHS GMS was added to BCAT2.
Source London North GLH was added to BCAT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCAT1 Ivone Leong Source NHS GMS was added to BCAT1.
Source London North GLH was added to BCAT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 BAAT Ivone Leong Source NHS GMS was added to BAAT.
Source London North GLH was added to BAAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 B4GALT7 Ivone Leong Source NHS GMS was added to B4GALT7.
Source London North GLH was added to B4GALT7.
Likely inborn error of metabolism - targeted testing not possible v1.47 B4GALT1 Ivone Leong Source NHS GMS was added to B4GALT1.
Source London North GLH was added to B4GALT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Source London North GLH was added to B3GLCT.
Likely inborn error of metabolism - targeted testing not possible v1.47 B3GAT3 Ivone Leong Source NHS GMS was added to B3GAT3.
Source London North GLH was added to B3GAT3.
Likely inborn error of metabolism - targeted testing not possible v1.47 AUH Ivone Leong Source NHS GMS was added to AUH.
Source London North GLH was added to AUH.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATXN7 Ivone Leong Source NHS GMS was added to ATXN7.
Source London North GLH was added to ATXN7.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATPAF2 Ivone Leong Source NHS GMS was added to ATPAF2.
Source London North GLH was added to ATPAF2.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP8B1 Ivone Leong Source NHS GMS was added to ATP8B1.
Source London North GLH was added to ATP8B1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP7B Ivone Leong Source NHS GMS was added to ATP7B.
Source London North GLH was added to ATP7B.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP7A Ivone Leong Source NHS GMS was added to ATP7A.
Source London North GLH was added to ATP7A.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP6V0A2 Ivone Leong Source NHS GMS was added to ATP6V0A2.
Source London North GLH was added to ATP6V0A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP5E Ivone Leong Source NHS GMS was added to ATP5E.
Source London North GLH was added to ATP5E.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP5A1 Ivone Leong Source NHS GMS was added to ATP5A1.
Source London North GLH was added to ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Source London North GLH was added to ATP13A2.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATIC Ivone Leong Source NHS GMS was added to ATIC.
Source London North GLH was added to ATIC.
Likely inborn error of metabolism - targeted testing not possible v1.47 ASS1 Ivone Leong Source NHS GMS was added to ASS1.
Source London North GLH was added to ASS1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ASPA Ivone Leong Source NHS GMS was added to ASPA.
Source London North GLH was added to ASPA.
Likely inborn error of metabolism - targeted testing not possible v1.47 ASL Ivone Leong Source NHS GMS was added to ASL.
Source London North GLH was added to ASL.
Likely inborn error of metabolism - targeted testing not possible v1.47 ASAH1 Ivone Leong Source NHS GMS was added to ASAH1.
Source London North GLH was added to ASAH1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ARSB Ivone Leong Source NHS GMS was added to ARSB.
Source London North GLH was added to ARSB.
Likely inborn error of metabolism - targeted testing not possible v1.47 ARSA Ivone Leong Source NHS GMS was added to ARSA.
Source London North GLH was added to ARSA.
Likely inborn error of metabolism - targeted testing not possible v1.47 ARG1 Ivone Leong Source NHS GMS was added to ARG1.
Source London North GLH was added to ARG1.
Likely inborn error of metabolism - targeted testing not possible v1.47 APTX Ivone Leong Source NHS GMS was added to APTX.
Source London North GLH was added to APTX.
Likely inborn error of metabolism - targeted testing not possible v1.47 APRT Ivone Leong Source NHS GMS was added to APRT.
Source London North GLH was added to APRT.
Likely inborn error of metabolism - targeted testing not possible v1.47 APOE Ivone Leong Source NHS GMS was added to APOE.
Source London North GLH was added to APOE.
Likely inborn error of metabolism - targeted testing not possible v1.47 APOC2 Ivone Leong Source NHS GMS was added to APOC2.
Source London North GLH was added to APOC2.
Likely inborn error of metabolism - targeted testing not possible v1.47 APOB Ivone Leong Source NHS GMS was added to APOB.
Source London North GLH was added to APOB.
Likely inborn error of metabolism - targeted testing not possible v1.47 APOA5 Ivone Leong Source NHS GMS was added to APOA5.
Source London North GLH was added to APOA5.
Likely inborn error of metabolism - targeted testing not possible v1.47 APOA1 Ivone Leong Source NHS GMS was added to APOA1.
Source London North GLH was added to APOA1.
Likely inborn error of metabolism - targeted testing not possible v1.47 AOX1 Ivone Leong Source NHS GMS was added to AOX1.
Source London North GLH was added to AOX1.
Likely inborn error of metabolism - targeted testing not possible v1.47 AMT Ivone Leong Source NHS GMS was added to AMT.
Source London North GLH was added to AMT.
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.