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Undiagnosed metabolic disorders v1.617 ADA Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Adenosine deaminase deficiency (Disorders of purine metabolism);Combined B and T cell defect;Infantile enterocolitis & monogenic inflammatory bowel disease;SCID
Undiagnosed metabolic disorders v1.617 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency (Disorders of purine metabolism); Combined B and T cell defect; Infantile enterocolitis & monogenic inflammatory bowel disease; SCID to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Undiagnosed metabolic disorders v1.615 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease; Glycogen storage disease Ia, 232200; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia to Glycogen storage disease Ia, OMIM:232200
Undiagnosed metabolic disorders v1.614 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity); X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); Erythropoietic protoporphyria, mild variant to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752
Undiagnosed metabolic disorders v1.613 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Undiagnosed metabolic disorders v1.613 TUSC3 Arina Puzriakova Publications for gene: TUSC3 were set to 27604308
Undiagnosed metabolic disorders v1.612 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
Undiagnosed metabolic disorders v1.611 HSD17B10 Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438
Undiagnosed metabolic disorders v1.610 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
Undiagnosed metabolic disorders v1.609 ATP5E Sarah Leigh Classified gene: ATP5E as Green List (high evidence)
Undiagnosed metabolic disorders v1.609 ATP5E Sarah Leigh Gene: atp5e has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.608 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
Undiagnosed metabolic disorders v1.607 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
Undiagnosed metabolic disorders v1.607 PIGM Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: PIGM.
Undiagnosed metabolic disorders v1.607 PIGM Sarah Leigh changed review comment from: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) 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).; to: 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).
Undiagnosed metabolic disorders v1.607 PIGM Sarah Leigh Classified gene: PIGM as Green List (high evidence)
Undiagnosed metabolic disorders v1.607 PIGM Sarah Leigh Gene: pigm has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.606 PIGM Sarah Leigh edited their review of gene: PIGM: Added comment: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) 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
Undiagnosed metabolic disorders v1.606 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906
Undiagnosed metabolic disorders v1.605 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Glycosylphosphatidylinositol deficiency 610293 to Glycosylphosphatidylinositol deficiency, OMIM:610293
Undiagnosed metabolic disorders v1.604 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Dyserythropoietic anemia, congenital, type II 224100 to Dyserythropoietic anemia, congenital, type II, OMIM:224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Undiagnosed metabolic disorders v1.603 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, updating the MOI from 'Both mono- and biallelic' to 'Biallelic' only.
Undiagnosed metabolic disorders v1.603 SEC23B Arina Puzriakova Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.602 SEC23B Arina Puzriakova Publications for gene: SEC23B were set to 27604308
Undiagnosed metabolic disorders v1.601 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Undiagnosed metabolic disorders v1.601 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Undiagnosed metabolic disorders v1.601 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Undiagnosed metabolic disorders v1.601 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L.
Undiagnosed metabolic disorders v1.601 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Undiagnosed metabolic disorders v1.601 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND3.
Undiagnosed metabolic disorders v1.601 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Undiagnosed metabolic disorders v1.601 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Undiagnosed metabolic disorders v1.601 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Undiagnosed metabolic disorders v1.601 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Undiagnosed metabolic disorders v1.601 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Undiagnosed metabolic disorders v1.601 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Undiagnosed metabolic disorders v1.601 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Undiagnosed metabolic disorders v1.601 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Tag refuted tag was added to gene: SLC6A20.
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Classified gene: SLC6A20 as Red List (low evidence)
Undiagnosed metabolic disorders v1.601 SLC6A20 Sarah Leigh Gene: slc6a20 has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.600 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
Undiagnosed metabolic disorders v1.600 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Undiagnosed metabolic disorders v1.600 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Undiagnosed metabolic disorders v1.600 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Undiagnosed metabolic disorders v1.600 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.600 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Undiagnosed metabolic disorders v1.600 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Undiagnosed metabolic disorders v1.600 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Undiagnosed metabolic disorders v1.600 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Undiagnosed metabolic disorders v1.600 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Undiagnosed metabolic disorders v1.600 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Undiagnosed metabolic disorders v1.600 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Undiagnosed metabolic disorders v1.600 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Undiagnosed metabolic disorders v1.600 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Undiagnosed metabolic disorders v1.600 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex III deficiency, nuclear type 3 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Undiagnosed metabolic disorders v1.599 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Undiagnosed metabolic disorders v1.598 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
Undiagnosed metabolic disorders v1.597 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to 27604308
Undiagnosed metabolic disorders v1.596 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.
Undiagnosed metabolic disorders v1.596 SLC12A3 Sarah Leigh Tag monogenic - polygenic tag was added to gene: SLC12A3.
Undiagnosed metabolic disorders v1.596 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.595 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: 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: Comment on mode of inheritance: 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).
Undiagnosed metabolic disorders v1.595 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Undiagnosed metabolic disorders v1.594 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Propionicacidemia to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Undiagnosed metabolic disorders v1.593 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.592 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: 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).
Undiagnosed metabolic disorders v1.592 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.591 ETFB Sarah Leigh Publications for gene: ETFB were set to 27604308
Undiagnosed metabolic disorders v1.590 ETFB Sarah Leigh Added comment: Comment on phenotypes: Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIB
Undiagnosed metabolic disorders v1.590 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIB to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Undiagnosed metabolic disorders v1.589 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
Undiagnosed metabolic disorders v1.588 ETFA Sarah Leigh Publications for gene: ETFA were set to 27604308
Undiagnosed metabolic disorders v1.587 OGDH Sarah Leigh Classified gene: OGDH as Green List (high evidence)
Undiagnosed metabolic disorders v1.587 OGDH Sarah Leigh Gene: ogdh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.586 OGDH Sarah Leigh reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.586 OGDH Sarah Leigh Mode of inheritance for gene: OGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.585 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; (OXOGLUTARIC ACIDURIA) to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Undiagnosed metabolic disorders v1.584 OGDH Sarah Leigh Publications for gene: OGDH were set to 27604308
Undiagnosed metabolic disorders v1.583 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism); Lacticacidemia due to PDX1 deficiency to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Undiagnosed metabolic disorders v1.582 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
Undiagnosed metabolic disorders v1.581 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
Undiagnosed metabolic disorders v1.580 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; 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
Undiagnosed metabolic disorders v1.579 SUCLA2 Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome 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
Undiagnosed metabolic disorders v1.578 NDUFV2 Arina Puzriakova Phenotypes for gene: NDUFV2 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; 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)
Undiagnosed metabolic disorders v1.577 NDUFB3 Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Undiagnosed metabolic disorders v1.576 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
Undiagnosed metabolic disorders v1.575 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 27604308
Undiagnosed metabolic disorders v1.574 SPG7 Sarah Leigh 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
Undiagnosed metabolic disorders v1.573 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 rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.573 SPG7 Sarah Leigh Added comment: Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity
Undiagnosed metabolic disorders v1.573 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Undiagnosed metabolic disorders v1.572 GABRG2 Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 16510738; 15342642; 23708187
Undiagnosed metabolic disorders v1.571 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Undiagnosed metabolic disorders v1.570 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
Undiagnosed metabolic disorders v1.569 HFE Arina Puzriakova Phenotypes for gene: HFE were changed from Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); Hemochromatosis, 235200 to Hemochromatosis, OMIM:235200; Disorder of iron metabolism
Undiagnosed metabolic disorders v1.568 GPHN Arina Puzriakova Publications for gene: GPHN were set to 27604308
Undiagnosed metabolic disorders v1.567 GPHN Arina Puzriakova Phenotypes for gene: GPHN were changed from Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy; Molybdenum cofactor deficiency C 615501 to Molybdenum cofactor deficiency C, OMIM:615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
Undiagnosed metabolic disorders v1.566 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); Cerebral creatine deficiency syndrome 3, 612718; arginine:glycine amidinotransferase deficiency to Cerebral creatine deficiency syndrome 3, OMIM:612718; Arginine:glycine amidinotransferase deficiency; Mitochondrial respiratory chain disorders (caused by nuclear variants only); Disorders of creatinine metabolism
Undiagnosed metabolic disorders v1.565 ADAR Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 615010; Dyschromatosis symmetrica hereditaria 127400 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
Undiagnosed metabolic disorders v1.564 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066
Undiagnosed metabolic disorders v1.563 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from ST3GAL3-CDG (Disorders of protein N-glycosylation); Intellectual disability 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
Undiagnosed metabolic disorders v1.562 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Undiagnosed metabolic disorders v1.561 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; 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); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) 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
Undiagnosed metabolic disorders v1.560 SDHA Arina Puzriakova Publications for gene: SDHA were set to 27604308
Undiagnosed metabolic disorders v1.559 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; 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
Undiagnosed metabolic disorders v1.558 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; 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
Undiagnosed metabolic disorders v1.557 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
Undiagnosed metabolic disorders v1.556 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Undiagnosed metabolic disorders v1.555 LYRM4 Arina Puzriakova Publications for gene: LYRM4 were set to 23814038
Undiagnosed metabolic disorders v1.554 LYRM4 Arina Puzriakova Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Undiagnosed metabolic disorders v1.553 LYRM4 Arina Puzriakova Classified gene: LYRM4 as Green List (high evidence)
Undiagnosed metabolic disorders v1.553 LYRM4 Arina Puzriakova Gene: lyrm4 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.552 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
Undiagnosed metabolic disorders v1.551 SDHA Arina Puzriakova Added comment: Comment on mode of inheritance: 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 MOI should be updated from 'biallelic' only to 'both mono- and biallelic' on Mitochondrial GMS panels (R354 and R63). As there was sufficient supporting evidence for the change, the MOI has also been updated to 'both' on this panel to ensure all panels reflect correct knowledge. Heterozygous variants can be associated with abnormal mitochondrial accumulation and therefore also within the scope of the panel.
Undiagnosed metabolic disorders v1.551 SDHA Arina Puzriakova Mode of inheritance for gene: SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.550 NDUFC2 Arina Puzriakova Tag Q2_21_rating was removed from gene: NDUFC2.
Undiagnosed metabolic disorders v1.550 NDUFC2 Arina Puzriakova Classified gene: NDUFC2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.550 NDUFC2 Arina Puzriakova Gene: ndufc2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.549 NDUFA12 Arina Puzriakova 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
Undiagnosed metabolic disorders v1.548 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 27604308
Undiagnosed metabolic disorders v1.547 NDUFA12 Arina Puzriakova Classified gene: NDUFA12 as Green List (high evidence)
Undiagnosed metabolic disorders v1.547 NDUFA12 Arina Puzriakova Added comment: Comment on list classification: Gene was recently upgraded from Amber to Green on GMS panels and therefore also updating the rating here to ensure all panels display correct knowledge.
Undiagnosed metabolic disorders v1.547 NDUFA12 Arina Puzriakova Gene: ndufa12 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.546 NDUFA12 Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.546 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Combined oxidative phosphorylation deficiency 22 616045; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228 to Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
Undiagnosed metabolic disorders v1.545 ATP5A1 Arina Puzriakova Classified gene: ATP5A1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.545 ATP5A1 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to support this gene-disease association and therefore ATP5A1 has been promoted to Green.
Undiagnosed metabolic disorders v1.545 ATP5A1 Arina Puzriakova Gene: atp5a1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.544 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to 27604308; 23599390; 23596069
Undiagnosed metabolic disorders v1.543 ATP5A1 Arina Puzriakova Added comment: Comment on mode of inheritance: Two families (with two affected sibs each) reported with recessive variants and supported by functional studies (PMIDs: 23599390; 23596069). Six unrelated patients have been reported with heterozygous variants; including one recurrent variant c.620G>A in four cases, c.545G>A and c.1037C>T in the remaining two, respectively (PMIDs: 34483339; 34954817).
Undiagnosed metabolic disorders v1.543 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.542 APOB Arina Puzriakova Mode of inheritance for gene: APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.541 APOB Arina Puzriakova Tag Q4_21_MOI was removed from gene: APOB.
Undiagnosed metabolic disorders v1.541 APOA5 Arina Puzriakova 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
Undiagnosed metabolic disorders v1.540 APOA5 Arina Puzriakova Tag Q3_21_MOI was removed from gene: APOA5.
Undiagnosed metabolic disorders v1.540 ALDH18A1 Arina Puzriakova Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.539 ALDH18A1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: ALDH18A1.
Undiagnosed metabolic disorders v1.539 DHTKD1 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated to biallelic to match MOI change approved on GMS Inborn errors of metabolism panel following check of MOIs on superpanel component panels.
Undiagnosed metabolic disorders v1.539 DHTKD1 Arina Puzriakova Mode of inheritance for gene: DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.538 DHTKD1 Arina Puzriakova Tag Q1_22_MOI was removed from gene: DHTKD1.
Undiagnosed metabolic disorders v1.538 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.
Undiagnosed metabolic disorders v1.538 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.
Undiagnosed metabolic disorders v1.538 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.
Undiagnosed metabolic disorders v1.538 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Undiagnosed metabolic disorders v1.538 TTC37 Sarah Leigh commented on gene: TTC37: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.
Undiagnosed metabolic disorders v1.538 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Undiagnosed metabolic disorders v1.538 SKIV2L Sarah Leigh commented on gene: SKIV2L: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.
Undiagnosed metabolic disorders v1.538 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Undiagnosed metabolic disorders v1.538 GBA Sarah Leigh commented on gene: GBA
Undiagnosed metabolic disorders v1.538 PEX6 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for PEX6 has been 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.; to: Comment on mode of inheritance: The mode of inheritance for PEX6 has been 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 for this gene, in order to highlight that unaffected parents may also carry rs61753230.
Undiagnosed metabolic disorders v1.538 SLC37A4 Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia; Glycogen storage disease Ib, 232220; Glycogen storage disease Ic, 232240; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Congenital disorder of glycosylation, type IIw, OMIM:619525
Undiagnosed metabolic disorders v1.537 SLC37A4 Arina Puzriakova Added comment: Comment on mode of inheritance: 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.
Undiagnosed metabolic disorders v1.537 SLC37A4 Arina Puzriakova Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.536 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Undiagnosed metabolic disorders v1.535 ACO2 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34056600 reports 61 cases of genetically unsolved inherited optic neuropathies who were harbouring variants in ACO2, of which 50 carried dominant variants (the remaining 11 cases were biallelic). The authors state that this is the first report of monoallelic pathogenic ACO2 variants resulting in dominant optic atrophy.
Undiagnosed metabolic disorders v1.535 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.534 PRODH Sarah Leigh Classified gene: PRODH as Green List (high evidence)
Undiagnosed metabolic disorders v1.534 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).
Undiagnosed metabolic disorders v1.534 PRODH Sarah Leigh Gene: prodh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.533 PRODH Sarah Leigh Phenotypes for gene: PRODH were changed from Hyperprolinaemia type I (Disorders of ornithine or proline metabolism); Hyperprolinemia, type I 239500 to Hyperprolinemia, type I, OMIM; 239500; hyperprolinemia type 1, MONDO:0009400
Undiagnosed metabolic disorders v1.532 TAZ Arina Puzriakova commented on gene: TAZ
Undiagnosed metabolic disorders v1.532 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Undiagnosed metabolic disorders v1.532 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Undiagnosed metabolic disorders v1.532 MT-ND5 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND5.
Undiagnosed metabolic disorders v1.532 MT-ND4L Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4L.
Undiagnosed metabolic disorders v1.532 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.532 MT-ND3 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND3.
Undiagnosed metabolic disorders v1.532 MT-ND2 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND2.
Undiagnosed metabolic disorders v1.532 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Undiagnosed metabolic disorders v1.532 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Undiagnosed metabolic disorders v1.532 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Undiagnosed metabolic disorders v1.532 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Undiagnosed metabolic disorders v1.532 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Undiagnosed metabolic disorders v1.532 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Undiagnosed metabolic disorders v1.532 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Undiagnosed metabolic disorders v1.532 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Undiagnosed metabolic disorders v1.532 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Undiagnosed metabolic disorders v1.532 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Undiagnosed metabolic disorders v1.532 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Undiagnosed metabolic disorders v1.532 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Undiagnosed metabolic disorders v1.532 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Undiagnosed metabolic disorders v1.532 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Undiagnosed metabolic disorders v1.532 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Undiagnosed metabolic disorders v1.532 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Undiagnosed metabolic disorders v1.532 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Undiagnosed metabolic disorders v1.532 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Undiagnosed metabolic disorders v1.532 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Undiagnosed metabolic disorders v1.532 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Undiagnosed metabolic disorders v1.532 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Undiagnosed metabolic disorders v1.532 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Undiagnosed metabolic disorders v1.532 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Undiagnosed metabolic disorders v1.532 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Undiagnosed metabolic disorders v1.532 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Undiagnosed metabolic disorders v1.532 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Undiagnosed metabolic disorders v1.532 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Undiagnosed metabolic disorders v1.532 FH Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency (Disorders of the citric acid cycle); Fumarase deficiency, 606812 to Fumarase deficiency, OMIM:606812; Disorders of the citric acid cycle
Undiagnosed metabolic disorders v1.531 SLC16A1 Sarah Leigh changed review comment from: Comment on phenotypes: mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7; to: Comment on phenotypes: Previous phenotype entry: mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7
Undiagnosed metabolic disorders v1.531 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
Undiagnosed metabolic disorders v1.531 SLC16A1 Sarah Leigh Added comment: Comment on phenotypes: mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7
Undiagnosed metabolic disorders v1.531 SLC16A1 Sarah Leigh Phenotypes for gene: SLC16A1 were changed from mainly ketosis with borderline reduction in glucose; Hyperinsulinemic hypoglycemia, familial, 7 to Erythrocyte lactate transporter defect, OMIM:245340; Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021; Monocarboxylate transporter 1 deficiency, OMIM:616095
Undiagnosed metabolic disorders v1.530 SETX Sarah Leigh Phenotypes for gene: SETX were changed from Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Amyotrophic lateral sclerosis/motor neuron disease; Charcot-Marie-Tooth disease; Hereditary ataxia to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002; Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Undiagnosed metabolic disorders v1.529 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
Undiagnosed metabolic disorders v1.529 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive, 614487 to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Undiagnosed metabolic disorders v1.528 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Undiagnosed metabolic disorders v1.527 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Optic atrophy 1, 165500; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy plus syndrome, 125250; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 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
Undiagnosed metabolic disorders v1.526 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Charcot-Marie-Tooth disease, type 2A2, 609260; 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
Undiagnosed metabolic disorders v1.525 C19orf12 Sarah Leigh Added comment: Comment on mode of inheritance: 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.
Undiagnosed metabolic disorders v1.525 C19orf12 Sarah Leigh Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.524 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
Undiagnosed metabolic disorders v1.523 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 27604308
Undiagnosed metabolic disorders v1.522 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, type 4A 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
Undiagnosed metabolic disorders v1.521 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Undiagnosed metabolic disorders v1.520 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863 to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Undiagnosed metabolic disorders v1.519 PEX6 Sarah Leigh Publications for gene: PEX6 were set to 27604308
Undiagnosed metabolic disorders v1.518 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for PEX6 has been 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.
Undiagnosed metabolic disorders v1.518 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.517 PEX6 Sarah Leigh reviewed gene: PEX6: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.517 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; respiratory chain disorder; hearing loss 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)
Undiagnosed metabolic disorders v1.516 SPTLC1 Sarah Leigh Mode of inheritance for gene: SPTLC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Undiagnosed metabolic disorders v1.515 SPTLC1 Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.514 SPTLC1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.514 GLS Arina Puzriakova Tag watchlist tag was added to gene: GLS.
Undiagnosed metabolic disorders v1.514 GLS Arina Puzriakova Tag for-review was removed from gene: GLS.
Undiagnosed metabolic disorders v1.514 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Undiagnosed metabolic disorders v1.514 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Undiagnosed metabolic disorders v1.513 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Undiagnosed metabolic disorders v1.511 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Undiagnosed metabolic disorders v1.510 EXT1 Arina Puzriakova Mode of inheritance for gene: EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders v1.509 EXT1 Arina Puzriakova Tag Q1_22_MOI was removed from gene: EXT1.
Undiagnosed metabolic disorders v1.509 DNM2 Arina Puzriakova Mode of inheritance for gene: DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.508 EXT1 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: EXT1.
Undiagnosed metabolic disorders v1.508 DHTKD1 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: DHTKD1.
Undiagnosed metabolic disorders v1.508 CPT2 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was updated from 'Biallelic' to 'Both mono- and biallelic'. 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)
Undiagnosed metabolic disorders v1.508 CPT2 Arina Puzriakova Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.507 CPT2 Arina Puzriakova Publications for gene: CPT2 were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.506 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836 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)
Undiagnosed metabolic disorders v1.505 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
Undiagnosed metabolic disorders v1.504 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
Undiagnosed metabolic disorders v1.503 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
Undiagnosed metabolic disorders v1.502 SLC30A10 Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Hypermanganesemia with dystonia 1 613280 to Hypermanganesemia with dystonia 1, OMIM:613280
Undiagnosed metabolic disorders v1.501 HIBADH Zornitza Stark gene: HIBADH was added
gene: HIBADH was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Undiagnosed metabolic disorders v1.501 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Inherited white matter disorders; Intellectual disability; Intracerebral calcification disorders to Aicardi-Goutieres syndrome 2, OMIM:610181
Undiagnosed metabolic disorders v1.500 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 pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.500 APOB Sarah Leigh Tag Q4_21_MOI tag was added to gene: APOB.
Undiagnosed metabolic disorders v1.500 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
Undiagnosed metabolic disorders v1.499 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
Undiagnosed metabolic disorders v1.498 HPRT1 Arina Puzriakova Phenotypes for gene: HPRT1 were changed from HPRT-related gout 300323; Lesch-Nyhan syndrome 300322 to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322
Undiagnosed metabolic disorders v1.497 CLPB Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'Biallelic' to 'Both mono- and biallelic'.

Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, six unrelated individuals with de novo monoallelic missense variants in CLPB were identified (PMID: 34140661). The phenotype strongly overlapped with that observed in the recessive disease, including 3-MGA-uria in all cases.
Undiagnosed metabolic disorders v1.497 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.496 CLPB Arina Puzriakova Publications for gene: CLPB were set to 25595726; 25597510; 25597511; 25650066
Undiagnosed metabolic disorders v1.495 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Undiagnosed metabolic disorders v1.494 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; 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
Undiagnosed metabolic disorders v1.493 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Undiagnosed metabolic disorders v1.493 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.
Undiagnosed metabolic disorders v1.493 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
Undiagnosed metabolic disorders v1.492 GLS Arina Puzriakova Tag watchlist_moi tag was added to gene: GLS.
Undiagnosed metabolic disorders v1.492 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Undiagnosed metabolic disorders v1.492 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders); Intellectual disability to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Undiagnosed metabolic disorders v1.491 ATXN7_CAG Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Undiagnosed metabolic disorders v1.490 ATXN7 Arina Puzriakova Phenotypes for gene: ATXN7 were changed from Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Undiagnosed metabolic disorders v1.489 ATXN7 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Undiagnosed metabolic disorders v1.489 ATXN7 Arina Puzriakova Mode of inheritance for gene: ATXN7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Undiagnosed metabolic disorders v1.488 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
Undiagnosed metabolic disorders v1.487 DHDDS Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa (other congenital disorders of glycosylation); Posterior segment abnormalities to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861; Posterior segment abnormalities
Undiagnosed metabolic disorders v1.486 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
Undiagnosed metabolic disorders v1.485 SLC25A15 Arina Puzriakova Phenotypes for gene: SLC25A15 were changed from HHH syndrome (Urea cycle disorders and inherited hyperammonaemias); Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Undiagnosed metabolic disorders v1.484 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease type IV, Andersen (Glycogen storage disorders); failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease IV, 232500; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease Type IV; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570
Undiagnosed metabolic disorders v1.483 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease, OMIM:245200
Undiagnosed metabolic disorders v1.482 ALDH3A2 Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders; Intellectual disability to Sjogren-Larsson syndrome, OMIM:270200
Undiagnosed metabolic disorders v1.481 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); Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 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)
Undiagnosed metabolic disorders v1.480 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias); Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 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)
Undiagnosed metabolic disorders v1.479 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
Undiagnosed metabolic disorders v1.478 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
Undiagnosed metabolic disorders v1.477 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.
Undiagnosed metabolic disorders v1.477 APOA5 Sarah Leigh Tag Q3_21_MOI tag was added to gene: APOA5.
Undiagnosed metabolic disorders v1.477 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
Undiagnosed metabolic disorders v1.477 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 12417525; 27678447; 16200213
Undiagnosed metabolic disorders v1.476 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); Hyperchylomicronemia, late-onset 144650; {Hypertriglyceridemia, susceptibility to} 145750 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788
Undiagnosed metabolic disorders v1.475 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213
Undiagnosed metabolic disorders v1.474 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308
Undiagnosed metabolic disorders v1.473 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).
Undiagnosed metabolic disorders v1.473 APOA1 Sarah Leigh Phenotypes for gene: APOA1 were changed from Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); Amyloidosis, 3 or more types 105200; ApoA-I and apoC-III deficiency, combined; Corneal clouding, autosomal recessive; 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
Undiagnosed metabolic disorders v1.472 APOA1 Sarah Leigh Publications for gene: APOA1 were set to 27604308
Undiagnosed metabolic disorders v1.471 COQ2 Ivone Leong Added comment: Comment on phenotypes: Previously:
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;Coenzyme Q10 deficiency;{Multiple system atrophy, susceptibility to}, 146500
Undiagnosed metabolic disorders v1.471 COQ2 Ivone Leong Phenotypes for gene: COQ2 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, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Undiagnosed metabolic disorders v1.470 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
Undiagnosed metabolic disorders v1.469 ABCB7 Ivone Leong Added comment: Comment on mode of inheritance: MOI 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" as there is no evidence that carrier females have ataxia.
Undiagnosed metabolic disorders v1.469 ABCB7 Ivone Leong 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
Undiagnosed metabolic disorders v1.468 ALDH18A1 Sarah Leigh Added comment: Comment on phenotypes: 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
Undiagnosed metabolic disorders v1.468 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
Undiagnosed metabolic disorders v1.467 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 27640307
Undiagnosed metabolic disorders v1.466 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810; Lactic acidosis; Methylglutaconic aciduria
Undiagnosed metabolic disorders v1.465 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'Biallelic' to 'Both mono- and biallelic'.

At least 6 families with heterozygous variants (PMID: 27640307; 28158749) and 7 unrelated families with biallelic SNVs in this gene (PMID: 27640307; 29053797; 31727539; 32607449; 33845882). Metabolic evaluation often show elevated 3-methylglutaconate and lactate in patients with variants in this gene.
Undiagnosed metabolic disorders v1.465 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.464 ACOX1 Ivone Leong Added comment: Comment on phenotypes: Previously:
Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation);Peroxisomal acyl-CoA oxidase deficiency
Undiagnosed metabolic disorders v1.464 ACOX1 Ivone Leong Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation); Peroxisomal acyl-CoA oxidase deficiency to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Undiagnosed metabolic disorders v1.463 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.462 ALDH18A1 Sarah Leigh reviewed gene: ALDH18A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.462 ALDH18A1 Sarah Leigh Tag Q3_21_MOI tag was added to gene: ALDH18A1.
Undiagnosed metabolic disorders v1.462 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); 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)
Undiagnosed metabolic disorders v1.461 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
Undiagnosed metabolic disorders v1.460 APOPT1 Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061; Isolated complex IV deficiency
Undiagnosed metabolic disorders v1.459 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
Undiagnosed metabolic disorders v1.458 NFU1 Arina Puzriakova Phenotypes for gene: NFU1 were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple mitochondrial dysfunctions syndrome 1 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.457 WFS1 Eleanor Williams Added comment: Comment on phenotypes: Original phenotypes were: Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Congenital hearing impairment (profound/severe); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Familial diabetes; Hereditary ataxia; Inherited optic neuropathies.
Undiagnosed metabolic disorders v1.457 WFS1 Eleanor Williams Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Congenital hearing impairment (profound/severe); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Familial diabetes; Hereditary ataxia; Inherited optic neuropathies to Wolfram syndrome 1, OMIM:222300
Undiagnosed metabolic disorders v1.456 WFS1 Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.456 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
Undiagnosed metabolic disorders v1.455 OCRL Eleanor Williams Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797
Undiagnosed metabolic disorders v1.454 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.454 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)
Undiagnosed metabolic disorders v1.453 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; Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IId, OMIM:607091
Undiagnosed metabolic disorders v1.452 FAR1 Arina Puzriakova Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Undiagnosed metabolic disorders v1.451 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 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); Perrault syndrome 4, 615300; Perrault syndrome 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
Undiagnosed metabolic disorders v1.450 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
Undiagnosed metabolic disorders v1.449 GNE Sarah Leigh Phenotypes for gene: GNE were changed from UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders); Nonaka myopathy 605820; 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
Undiagnosed metabolic disorders v1.448 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.447 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Undiagnosed metabolic disorders v1.447 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Undiagnosed metabolic disorders v1.447 C12orf65 Catherine Snow commented on gene: C12orf65
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow commented on gene: G6PC
Undiagnosed metabolic disorders v1.447 CD320 Arina Puzriakova Source: Expert Review Amber was removed from gene: CD320
Undiagnosed metabolic disorders v1.446 SLC36A2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SLC36A2
Undiagnosed metabolic disorders v1.445 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.445 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.
Undiagnosed metabolic disorders v1.445 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFC2.
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh commented on gene: NDUFC2: 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).
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Undiagnosed metabolic disorders v1.443 NDUFC2 Sarah Leigh gene: NDUFC2 was added
gene: NDUFC2 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Review for gene: NDUFC2 was set to GREEN
Added comment: Sources: Literature
Undiagnosed metabolic disorders v1.442 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 to Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853; X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Undiagnosed metabolic disorders v1.441 MAGT1 Sarah Leigh commented on gene: MAGT1: PMID 31036665 and PMID 31714901 demonstrate that variants in MAGT1 can result in disruption of glycosylation. This effect could be rescued in vitro by transfection of MAGT1 mRNA (PMID 31714901).
This gene is subject to skewed X-inactivation.
Undiagnosed metabolic disorders v1.441 MAGT1 Sarah Leigh Tag Skewed X-inactivation tag was added to gene: MAGT1.
Undiagnosed metabolic disorders v1.441 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834; (SC4MOL DEFICIENCY) 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
Undiagnosed metabolic disorders v1.440 GLS Arina Puzriakova Classified gene: GLS as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.440 GLS Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber. There are sufficient cases, supported by functional data, to rate this gene Green - however, detection of the 5' UTR triplet expansion (PMID:30970188) must first be 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 keeping Amber until the STR is validated or additional cases arise.
Undiagnosed metabolic disorders v1.440 GLS Arina Puzriakova Gene: gls has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.439 GLS Arina Puzriakova Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation) 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
Undiagnosed metabolic disorders v1.438 GLS Arina Puzriakova Publications for gene: GLS were set to 27604308
Undiagnosed metabolic disorders v1.437 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.
Undiagnosed metabolic disorders v1.437 GLS Arina Puzriakova Mode of inheritance for gene: GLS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.436 GLS Arina Puzriakova Tag STR tag was added to gene: GLS.
Tag for-review tag was added to gene: GLS.
Undiagnosed metabolic disorders v1.436 GLS Arina Puzriakova reviewed gene: GLS: Rating: GREEN; 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
Undiagnosed metabolic disorders v1.436 MPI Arina Puzriakova Publications for gene: MPI were set to 27604308
Undiagnosed metabolic disorders v1.435 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; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Undiagnosed metabolic disorders v1.434 HS2ST1 Ivone Leong Classified gene: HS2ST1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.434 HS2ST1 Ivone Leong Gene: hs2st1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.433 HS2ST1 Ivone Leong gene: HS2ST1 was added
gene: HS2ST1 was added to Undiagnosed metabolic disorders. Sources: Literature
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 GREEN
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.

There is enough evidence to support a gene-disease association, so this gene has been rated Green.
Sources: Literature
Undiagnosed metabolic disorders v1.432 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); Intellectual disability; Hyperlysinemia 238700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
Undiagnosed metabolic disorders v1.431 ALDH7A1 Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.431 DDC Arina Puzriakova Publications for gene: DDC were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.430 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
Undiagnosed metabolic disorders v1.429 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to 27604308
Undiagnosed metabolic disorders v1.428 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Undiagnosed metabolic disorders v1.427 SCO1 Arina Puzriakova Publications for gene: SCO1 were set to 27604308
Undiagnosed metabolic disorders v1.426 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Hepatic failure, early onset, and neurologic disorder; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Undiagnosed metabolic disorders v1.425 ALG14 Arina Puzriakova Classified gene: ALG14 as Green List (high evidence)
Undiagnosed metabolic disorders v1.425 ALG14 Arina Puzriakova Gene: alg14 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.424 ALG14 Arina Puzriakova Tag for-review was removed from gene: ALG14.
Undiagnosed metabolic disorders v1.424 AHCY Arina Puzriakova Classified gene: AHCY as Green List (high evidence)
Undiagnosed metabolic disorders v1.424 AHCY Arina Puzriakova Added comment: Comment on list classification: Promoted from Red to Green - multiple unrelated families with this neurometabolic disorder caused by biallelic variants in AHCY.
Undiagnosed metabolic disorders v1.424 AHCY Arina Puzriakova Gene: ahcy has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.423 AHCY Arina Puzriakova Tag for-review was removed from gene: AHCY.
Undiagnosed metabolic disorders v1.423 AHCY Arina Puzriakova Deleted their comment
Undiagnosed metabolic disorders v1.423 XYLT1 Arina Puzriakova Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 to Desbuquois dysplasia 2, 615777
Undiagnosed metabolic disorders v1.422 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
Undiagnosed metabolic disorders v1.421 AHCY Arina Puzriakova Publications for gene: AHCY were set to 27604308
Undiagnosed metabolic disorders v1.420 AHCY Arina Puzriakova Classified gene: AHCY as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.420 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.
Undiagnosed metabolic disorders v1.420 AHCY Arina Puzriakova Gene: ahcy has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.419 AHCY Arina Puzriakova Tag treatable tag was added to gene: AHCY.
Tag for-review tag was added to gene: AHCY.
Undiagnosed metabolic disorders v1.419 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)
Undiagnosed metabolic disorders v1.419 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
Undiagnosed metabolic disorders v1.419 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to
Undiagnosed metabolic disorders v1.418 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.418 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
Undiagnosed metabolic disorders v1.418 ALG14 Sarah Leigh Tag for-review tag was added to gene: ALG14.
Undiagnosed metabolic disorders v1.418 ALG14 Sarah Leigh Publications for gene: ALG14 were set to 27604308
Undiagnosed metabolic disorders v1.417 ALG14 Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.417 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.
Undiagnosed metabolic disorders v1.417 ALG14 Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.416 SLC25A4 Sarah Leigh Added comment: Comment on mode of inheritance: Because Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 is also relevant to this panel.
Undiagnosed metabolic disorders v1.416 SLC25A4 Sarah Leigh Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.415 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.; to: 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.
Undiagnosed metabolic disorders v1.415 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.
Undiagnosed metabolic disorders v1.415 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.414 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Undiagnosed metabolic disorders v1.414 TANGO2 Sarah Leigh Publications for gene: TANGO2 were set to
Undiagnosed metabolic disorders v1.413 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
Undiagnosed metabolic disorders v1.413 DPM3 Louise Daugherty Tag watchlist was removed from gene: DPM3.
Undiagnosed metabolic disorders v1.413 DPM3 Louise Daugherty commented on gene: DPM3
Undiagnosed metabolic disorders v1.413 ATAD3A Louise Daugherty commented on gene: ATAD3A
Undiagnosed metabolic disorders v1.413 ATAD3A Louise Daugherty Tag watchlist was removed from gene: ATAD3A.
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger commented on gene: FMO3
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger Tag treatable tag was added to gene: FMO3.
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger Phenotypes for gene: FMO3 were changed from Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) to Trimethylaminuria, 602079
Undiagnosed metabolic disorders v1.412 FMO3 Rebecca Foulger Publications for gene: FMO3 were set to 27604308
Undiagnosed metabolic disorders v1.411 SETX Catherine Snow Classified gene: SETX as Green List (high evidence)
Undiagnosed metabolic disorders v1.411 SETX Catherine Snow Gene: setx has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.410 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
Undiagnosed metabolic disorders v1.410 SKIV2L Catherine Snow Classified gene: SKIV2L as Green List (high evidence)
Undiagnosed metabolic disorders v1.410 SKIV2L Catherine Snow Gene: skiv2l has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.409 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
Undiagnosed metabolic disorders v1.409 SLC12A3 Catherine Snow Classified gene: SLC12A3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.409 SLC12A3 Catherine Snow Gene: slc12a3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.408 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
Undiagnosed metabolic disorders v1.408 SLC18A2 Catherine Snow Classified gene: SLC18A2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.408 SLC18A2 Catherine Snow Gene: slc18a2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.407 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
Undiagnosed metabolic disorders v1.407 SLC35A2 Catherine Snow Classified gene: SLC35A2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.407 SLC35A2 Catherine Snow Gene: slc35a2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.406 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: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Undiagnosed metabolic disorders v1.406 SLC3A1 Catherine Snow Classified gene: SLC3A1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.406 SLC3A1 Catherine Snow Gene: slc3a1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.405 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
Undiagnosed metabolic disorders v1.405 SLC6A3 Catherine Snow Phenotypes for gene: SLC6A3 were changed from Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) ; Early onset dystonia; Intellectual disability; Parkinson Disease and Complex Parkinsonism to Parkinsonism-dystonia, infantile, 1, 613135; Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism); Early onset dystonia; Intellectual disability; Parkinson Disease and Complex Parkinsonism
Undiagnosed metabolic disorders v1.404 SLC6A3 Catherine Snow Publications for gene: SLC6A3 were set to 27604308
Undiagnosed metabolic disorders v1.403 SLC6A3 Catherine Snow Classified gene: SLC6A3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.403 SLC6A3 Catherine Snow Added comment: Comment on list classification: ted 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.
Undiagnosed metabolic disorders v1.403 SLC6A3 Catherine Snow Gene: slc6a3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.402 RBP4 Ivone Leong Classified gene: RBP4 as Green List (high evidence)
Undiagnosed metabolic disorders v1.402 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.
Undiagnosed metabolic disorders v1.402 RBP4 Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.401 SLC6A8 Catherine Snow Classified gene: SLC6A8 as Green List (high evidence)
Undiagnosed metabolic disorders v1.401 SLC6A8 Catherine Snow Gene: slc6a8 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.400 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
Undiagnosed metabolic disorders v1.400 SLC7A9 Catherine Snow Classified gene: SLC7A9 as Green List (high evidence)
Undiagnosed metabolic disorders v1.400 SLC7A9 Catherine Snow Gene: slc7a9 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.399 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
Undiagnosed metabolic disorders v1.399 NNT Catherine Snow Classified gene: NNT as Green List (high evidence)
Undiagnosed metabolic disorders v1.399 NNT Catherine Snow Gene: nnt has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.398 NNT Catherine Snow gene: NNT was added
gene: NNT was added to Undiagnosed metabolic disorders. Sources: Expert Review
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 27129361; 28546232
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Review for gene: NNT was set to GREEN
Added comment: Relevant phenotype in OMIM but not in Gene2Phenotype. Sufficient cases in OMIM to classify NNT as Green
Sources: Expert Review
Undiagnosed metabolic disorders v1.397 TRAP1 Catherine Snow Classified gene: TRAP1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.397 TRAP1 Catherine Snow Gene: trap1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.396 TRAP1 Catherine Snow gene: TRAP1 was added
gene: TRAP1 was added to Undiagnosed metabolic disorders. Sources: Expert list
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to VACTERL; CAKUT
Review for gene: TRAP1 was set to GREEN
Added comment: Not in OMIM or Gene2Phenotype. Recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. Metabolism phenotype as the encoded protein has ATPase activity and interacts with tumor necrosis factor type I.
Sources: Expert list
Undiagnosed metabolic disorders v1.395 MRPL12 Catherine Snow gene: MRPL12 was added
gene: MRPL12 was added to Undiagnosed metabolic disorders. Sources: Expert list
Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL12 were set to 23603806
Phenotypes for gene: MRPL12 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Review for gene: MRPL12 was set to RED
Added comment: A single reported family in the literature therefore classified as Red.
Sources: Expert list
Undiagnosed metabolic disorders v1.394 LYRM4 Catherine Snow gene: LYRM4 was added
gene: LYRM4 was added to Undiagnosed metabolic disorders. Sources: Expert Review
Mode of inheritance for gene: LYRM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM4 were set to 23814038
Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595
Review for gene: LYRM4 was set to AMBER
Added comment: LYRM4 is in OMIM but not in Gene2Phenotype. Two related patients in PMID 23814038 and some functional work. As <3 unrelated patients, classifying LYRM4 as Amber.
Sources: Expert Review
Undiagnosed metabolic disorders v1.393 LARS Catherine Snow Classified gene: LARS as Green List (high evidence)
Undiagnosed metabolic disorders v1.393 LARS Catherine Snow Gene: lars has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.392 LARS Catherine Snow commented on gene: LARS: Added new-gene-name tag, new approved HGNC gene symbol for LARS is LARS1
Undiagnosed metabolic disorders v1.392 LARS Catherine Snow Tag new-gene-name tag was added to gene: LARS.
Undiagnosed metabolic disorders v1.392 LARS Catherine Snow changed review comment from: LARS1 has a relevant phenotype and is in OMIM, but not in Gene2Phenotype. PMID: 30349989 describes a premature girl who was identified to have compound hetrozygous variants in LARS1, this has caused infantile liver failure syndrome, type 1 (ILFS1). The paper also summarised the clinical features of reported patients with infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency, in total 6 compound hetrozygous variants identified in 14 patients in 7 families. Sufficient variants and relevant phenotype to upgrade LARS1 from Red to Green.
Sources: Expert Review; to: LARS1 has a relevant phenotype and is in OMIM, but not in Gene2Phenotype. PMID: 30349989 describes a premature girl who was identified to have compound hetrozygous variants in LARS1, this has caused infantile liver failure syndrome, type 1 (ILFS1). The paper also summarised the clinical features of reported patients with infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency, in total 6 compound hetrozygous variants identified in 14 patients in 7 families. Sufficient variants and relevant phenotype to classify LARS1 as Green.
Sources: Expert Review
Undiagnosed metabolic disorders v1.392 LARS Catherine Snow gene: LARS was added
gene: LARS was added to Undiagnosed metabolic disorders. Sources: Expert Review
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to ?Infantile liver failure syndrome 1, 615438
Review for gene: LARS was set to GREEN
Added comment: LARS1 has a relevant phenotype and is in OMIM, but not in Gene2Phenotype. PMID: 30349989 describes a premature girl who was identified to have compound hetrozygous variants in LARS1, this has caused infantile liver failure syndrome, type 1 (ILFS1). The paper also summarised the clinical features of reported patients with infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency, in total 6 compound hetrozygous variants identified in 14 patients in 7 families. Sufficient variants and relevant phenotype to upgrade LARS1 from Red to Green.
Sources: Expert Review
Undiagnosed metabolic disorders v1.391 TTC37 Catherine Snow Publications for gene: TTC37 were set to 27604308
Undiagnosed metabolic disorders v1.390 TTC37 Catherine Snow Classified gene: TTC37 as Green List (high evidence)
Undiagnosed metabolic disorders v1.390 TTC37 Catherine Snow Gene: ttc37 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.389 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
Undiagnosed metabolic disorders v1.389 ST3GAL3 Catherine Snow Publications for gene: ST3GAL3 were set to 27604308
Undiagnosed metabolic disorders v1.388 ST3GAL3 Catherine Snow Classified gene: ST3GAL3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.388 ST3GAL3 Catherine Snow Gene: st3gal3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.387 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
Undiagnosed metabolic disorders v1.387 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
Undiagnosed metabolic disorders v1.387 WFS1 Catherine Snow Publications for gene: WFS1 were set to 27604308
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Classified gene: WFS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Added comment: Comment on list classification: Promoted from Amber to Green. WFS1 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.
Undiagnosed metabolic disorders v1.386 WFS1 Catherine Snow Gene: wfs1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.385 VKORC1 Catherine Snow changed review comment from: 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.; to: Comment on list classification: Promoted from Amber to Green. VKORC1 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.
Undiagnosed metabolic disorders v1.385 VKORC1 Catherine Snow Classified gene: VKORC1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.385 VKORC1 Catherine Snow Gene: vkorc1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.384 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
Undiagnosed metabolic disorders v1.384 VIPAS39 Catherine Snow Classified gene: VIPAS39 as Green List (high evidence)
Undiagnosed metabolic disorders v1.384 VIPAS39 Catherine Snow Gene: vipas39 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.383 VIPAS39 Catherine Snow reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 22753090, 26808426; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.383 VPS33B Catherine Snow Publications for gene: VPS33B were set to 27604308
Undiagnosed metabolic disorders v1.382 VPS33B Catherine Snow Classified gene: VPS33B as Green List (high evidence)
Undiagnosed metabolic disorders v1.382 VPS33B Catherine Snow Gene: vps33b has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.381 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
Undiagnosed metabolic disorders v1.381 UQCRB Catherine Snow Classified gene: UQCRB as Green List (high evidence)
Undiagnosed metabolic disorders v1.381 UQCRB Catherine Snow Gene: uqcrb has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.380 UQCRB Catherine Snow reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25446085 28604960 12709789 23454382; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.380 UMOD Catherine Snow Publications for gene: UMOD were set to 27604308
Undiagnosed metabolic disorders v1.379 UMOD Catherine Snow edited their review of gene: UMOD: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Undiagnosed metabolic disorders v1.379 UMOD Catherine Snow changed review comment from: 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.; to: 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.
Undiagnosed metabolic disorders v1.379 UMOD Catherine Snow Classified gene: UMOD as Green List (high evidence)
Undiagnosed metabolic disorders v1.379 UMOD Catherine Snow Gene: umod has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.378 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
Undiagnosed metabolic disorders v1.378 TUFM Catherine Snow Classified gene: TUFM as Green List (high evidence)
Undiagnosed metabolic disorders v1.378 TUFM Catherine Snow Gene: tufm has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.377 TUFM Catherine Snow edited their review of gene: TUFM: Changed phenotypes: Combined oxidative phosphorylation deficiency 4, 610678
Undiagnosed metabolic disorders v1.377 TUFM Catherine Snow edited their review of gene: TUFM: Changed publications: 28132884, 25735936, 17160893, 26741492
Undiagnosed metabolic disorders v1.377 TUFM Catherine Snow reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 28132884, 25735936, 17160893, 26741492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.377 TTPA Catherine Snow Publications for gene: TTPA were set to 27604308
Undiagnosed metabolic disorders v1.376 TTPA Catherine Snow Classified gene: TTPA as Green List (high evidence)
Undiagnosed metabolic disorders v1.376 TTPA Catherine Snow Gene: ttpa has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.375 TTPA Catherine Snow reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, 277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.375 TREX1 Catherine Snow Publications for gene: TREX1 were set to 27604308
Undiagnosed metabolic disorders v1.374 TREX1 Catherine Snow Classified gene: TREX1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.374 TREX1 Catherine Snow Gene: trex1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.373 TREX1 Catherine Snow reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 12624136, 25604658; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.373 TCN2 Catherine Snow Added comment: Comment on publications: There are >3 unrelated cases reported in the literature.
Undiagnosed metabolic disorders v1.373 TCN2 Catherine Snow Publications for gene: TCN2 were set to 27604308
Undiagnosed metabolic disorders v1.372 TCN2 Catherine Snow Classified gene: TCN2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.372 TCN2 Catherine Snow Gene: tcn2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.371 TCN2 Catherine Snow reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 19373259; Phenotypes: Transcobalamin II deficiency, 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.371 TAT Catherine Snow Publications for gene: TAT were set to 27604308
Undiagnosed metabolic disorders v1.370 TAT Catherine Snow Classified gene: TAT as Green List (high evidence)
Undiagnosed metabolic disorders v1.370 TAT Catherine Snow Gene: tat has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.369 TAT Catherine Snow reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 28255985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.369 STS Catherine Snow Added comment: Comment on publications: There are >3 unrelated cases.
Undiagnosed metabolic disorders v1.369 STS Catherine Snow Publications for gene: STS were set to 27604308; 1539590; 29672931
Undiagnosed metabolic disorders v1.368 STS Catherine Snow changed review comment from: 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.; to: 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.
Undiagnosed metabolic disorders v1.368 STS Catherine Snow Publications for gene: STS were set to 27604308
Undiagnosed metabolic disorders v1.367 STS Catherine Snow Classified gene: STS as Green List (high evidence)
Undiagnosed metabolic disorders v1.367 STS Catherine Snow Gene: sts has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.366 STS Catherine Snow reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: 1539590, 29672931; Phenotypes: Ichthyosis, X-linked, 308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders v1.366 ISCA2 Sarah Leigh Classified gene: ISCA2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.366 ISCA2 Sarah Leigh Gene: isca2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.365 ISCA2 Sarah Leigh gene: ISCA2 was added
gene: ISCA2 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 25539947; 29359243
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4 616370
Review for gene: ISCA2 was set to GREEN
Added comment: 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).
Sources: Literature
Undiagnosed metabolic disorders v1.364 DNM2 Sarah Leigh Classified gene: DNM2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.364 DNM2 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 case with multiple deletions and COX negative fibres; 5 cases presented in a poster with dominant DMN2 variants (had COX deficient muscle fibres, one case with the p.Arg369Trp revealed disruption of the dynamic mitochondrial network, https://doi.org/10.1016/j.nmd.2012.06.124). From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial DNA maintenance disorder (Version 0.8).
Undiagnosed metabolic disorders v1.364 DNM2 Sarah Leigh Gene: dnm2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.363 DNM2 Sarah Leigh Publications for gene: DNM2 were set to
Undiagnosed metabolic disorders v1.362 DNM2 Sarah Leigh Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1 160150; -Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482 to Centronuclear myopathy 1 160150; Charcot-Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482
Undiagnosed metabolic disorders v1.361 SLC2A1 Ivone Leong Classified gene: SLC2A1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.361 SLC2A1 Ivone Leong Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.361 SLC2A1 Ivone Leong Gene: slc2a1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.360 HSPA9 Sarah Leigh Classified gene: HSPA9 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.360 HSPA9 Sarah Leigh Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.359 HSPA9 Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants reported in Anemia, sideroblastic, 4 182170.
Undiagnosed metabolic disorders v1.359 HSPA9 Sarah Leigh Phenotypes for gene: HSPA9 were changed from Even-plus syndrome 616854 to Even-plus syndrome 616854
Undiagnosed metabolic disorders v1.358 HSPA9 Sarah Leigh gene: HSPA9 was added
gene: HSPA9 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328
Phenotypes for gene: HSPA9 were set to Even-plus syndrome 616854
Review for gene: HSPA9 was set to AMBER
Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.
Sources: Literature
Undiagnosed metabolic disorders v1.357 FDX2 Sarah Leigh Classified gene: FDX2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.357 FDX2 Sarah Leigh Added comment: Comment on list classification: Based on reviews from Carl Fratter and Zornitza Stark (below).
This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated familties; iron sulfur pathway. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Promoted from red to amber, based on the expert review by Zornitza Stark (Australian Genomics) and the literature. FDX2 is associated with a phenotype in OMIM and not Gene2Phenotype. PMID: 24281368 describes a patient born of consanguineous Jewish Moroccan patents with episodic mitochondrial myopathy without optic atrophy or reversible leukoencephalopathy. The authors identified a homozygous missense variant in this gene (M1L). PMID: 30010796 describes 6 patients from 2 apparently unrelated Brazilian familes from the same geographical region with episodic mitochondrial myopathy. All affected individuals had the same homozygous variant (P144L). No haplotype analysis was performed. As there are only 2 different variants reported in this gene and no haplotype analysis was performed in PMID: 30010796 it was decided that there is currently not enough evidence to promote this gene to green status.
Undiagnosed metabolic disorders v1.357 FDX2 Sarah Leigh Gene: fdx2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.356 FDX2 Sarah Leigh gene: FDX2 was added
gene: FDX2 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 24281368; 28803783; 30010796
Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 251900
Review for gene: FDX2 was set to GREEN
Added comment: Sources: Literature
Undiagnosed metabolic disorders v1.351 DNM2 Sarah Leigh gene: DNM2 was added
gene: DNM2 was added to Undiagnosed metabolic disorders. Sources: Other
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM2 were set to Centronuclear myopathy 1 160150; -Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482
Undiagnosed metabolic disorders v1.351 DNM2 Sarah Leigh gene: DNM2 was added
gene: DNM2 was added to Undiagnosed metabolic disorders. Sources: Other
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM2 were set to Centronuclear myopathy 1 160150; -Marie-Tooth disease, axonal type 2M 606482; Charcot-Marie-Tooth disease, dominant intermediate B 606482
Undiagnosed metabolic disorders v1.350 COX8A Sarah Leigh gene: COX8A was added
gene: COX8A was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX8A were set to 26685157
Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency 220110
Review for gene: COX8A was set to RED
Added comment: 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).
Sources: Literature
Undiagnosed metabolic disorders v1.349 COQ7 Sarah Leigh Classified gene: COQ7 as Green List (high evidence)
Undiagnosed metabolic disorders v1.349 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.
Undiagnosed metabolic disorders v1.349 COQ7 Sarah Leigh Gene: coq7 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.348 COQ7 Sarah Leigh gene: COQ7 was added
gene: COQ7 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 26084283; 28409910
Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733
Review for gene: COQ7 was set to GREEN
Added comment: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Sources: Literature
Undiagnosed metabolic disorders v1.347 TMEM126A Sarah Leigh Classified gene: TMEM126A as Red List (low evidence)
Undiagnosed metabolic disorders v1.347 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.
Undiagnosed metabolic disorders v1.347 TMEM126A Sarah Leigh Gene: tmem126a has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.346 TMEM126A Sarah Leigh Added comment: Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.346 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 to Optic atrophy 7 612989
Undiagnosed metabolic disorders v1.345 TMEM126A Sarah Leigh Publications for gene: TMEM126A were set to 27604308
Undiagnosed metabolic disorders v1.344 PDK3 Sarah Leigh Classified gene: PDK3 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.344 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.
Undiagnosed metabolic disorders v1.344 PDK3 Sarah Leigh Gene: pdk3 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.343 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).
Undiagnosed metabolic disorders v1.343 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
Undiagnosed metabolic disorders v1.342 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.
Undiagnosed metabolic disorders v1.342 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.
Undiagnosed metabolic disorders v1.342 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.
Undiagnosed metabolic disorders v1.342 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).
Undiagnosed metabolic disorders v1.342 COA5 Sarah Leigh changed review comment from: Associated with phenotype in OMIM and as a possible G2P. At least 1 variant reported.; 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 as a possible G2P. At least 1 variant reported.
Undiagnosed metabolic disorders v1.342 ATP5E Sarah Leigh changed review comment from: Comment on list classification: Updated information and 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. Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.
Undiagnosed metabolic disorders v1.342 ATP5A1 Sarah Leigh changed review comment from: Comment on list classification: Two variants together with functional studies. 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 in this publication 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 in this publication have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Undiagnosed metabolic disorders v1.342 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308; 26801680; 28902413
Undiagnosed metabolic disorders v1.341 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308; 23297365
Undiagnosed metabolic disorders v1.340 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308
Undiagnosed metabolic disorders v1.339 PDK3 Sarah Leigh Added comment: Comment on phenotypes: Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Undiagnosed metabolic disorders v1.339 PDK3 Sarah Leigh Phenotypes for gene: PDK3 were changed from Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism); ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 to ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905
Undiagnosed metabolic disorders v1.338 PDK1 Sarah Leigh Classified gene: PDK1 as Red List (low evidence)
Undiagnosed metabolic disorders v1.338 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.
Undiagnosed metabolic disorders v1.338 PDK1 Sarah Leigh Gene: pdk1 has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.337 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 27604308
Undiagnosed metabolic disorders v1.336 NDUFA12 Sarah Leigh Added comment: Comment on phenotypes: Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Undiagnosed metabolic disorders v1.336 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Leigh syndrome due to mitochondrial complex 1 deficiency,256000 to ?Mitochondrial complex I deficiency, nuclear type 23 618244
Undiagnosed metabolic disorders v1.335 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.335 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.
Undiagnosed metabolic disorders v1.335 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.334 MRPS16 Sarah Leigh Publications for gene: MRPS16 were set to 27604308; 28749478; 15505824
Undiagnosed metabolic disorders v1.333 MRPS16 Sarah Leigh Classified gene: MRPS16 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.333 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.
Undiagnosed metabolic disorders v1.333 MRPS16 Sarah Leigh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.332 MRPS16 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Undiagnosed metabolic disorders v1.332 MRPS16 Sarah Leigh Phenotypes for gene: MRPS16 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 2, 610498; CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 2 610498
Undiagnosed metabolic disorders v1.331 MRPS16 Sarah Leigh Publications for gene: MRPS16 were set to 27604308
Undiagnosed metabolic disorders v1.330 COX4I2 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Undiagnosed metabolic disorders v1.330 COX4I2 Sarah Leigh Phenotypes for gene: COX4I2 were changed from 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
Undiagnosed metabolic disorders v1.329 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 27604308
Undiagnosed metabolic disorders v1.328 COX4I2 Sarah Leigh Classified gene: COX4I2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.328 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).
Undiagnosed metabolic disorders v1.328 COX4I2 Sarah Leigh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.327 COA5 Sarah Leigh Publications for gene: COA5 were set to 27604308
Undiagnosed metabolic disorders v1.326 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Undiagnosed metabolic disorders v1.325 ATP5E Sarah Leigh Classified gene: ATP5E as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.325 ATP5E Sarah Leigh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.324 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Undiagnosed metabolic disorders v1.323 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Undiagnosed metabolic disorders v1.322 ATP5E Sarah Leigh Added comment: Comment on phenotypes: Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Undiagnosed metabolic disorders v1.322 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Undiagnosed metabolic disorders v1.321 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).
Undiagnosed metabolic disorders v1.321 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304
Undiagnosed metabolic disorders v1.320 ATP5E Sarah Leigh Classified gene: ATP5E as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.320 ATP5E Sarah Leigh Added comment: Comment on list classification: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.
Undiagnosed metabolic disorders v1.320 ATP5E Sarah Leigh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.319 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 27604308; 20566710
Undiagnosed metabolic disorders v1.318 ATP5E Sarah Leigh Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.317 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 27604308
Undiagnosed metabolic disorders v1.316 ATP5A1 Sarah Leigh changed review comment from: Comment on list classification: Two variants together with functional studies. 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: Two variants together with functional studies. 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 in this publication have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Undiagnosed metabolic disorders v1.316 SPTLC1 Catherine Snow Publications for gene: SPTLC1 were set to 27604308
Undiagnosed metabolic disorders v1.315 SPTLC1 Catherine Snow Classified gene: SPTLC1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.315 SPTLC1 Catherine Snow Gene: sptlc1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.314 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
Undiagnosed metabolic disorders v1.314 SPTLC2 Catherine Snow Publications for gene: SPTLC2 were set to 27604308
Undiagnosed metabolic disorders v1.313 SPTLC2 Catherine Snow Classified gene: SPTLC2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.313 SPTLC2 Catherine Snow Gene: sptlc2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.312 SPTLC2 Catherine Snow reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 20920666; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders v1.312 SPR 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. Sepiapterin reductase (SR) deficiency leads to altered tetrahydrobiopterin (BH4) biosynthesis and abnormal biogenic amine metabolism. Most individuals improve with L-dopa administration, therefore treatable tag has been added.; to: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. Sepiapterin reductase (SR) deficiency leads to altered tetrahydrobiopterin (BH4) biosynthesis and abnormal biogenic amine metabolism. Most individuals improve with L-dopa administration, therefore treatable tag has been added.
Undiagnosed metabolic disorders v1.312 SPR Catherine Snow Publications for gene: SPR were set to 27604308
Undiagnosed metabolic disorders v1.311 SPR Catherine Snow Classified gene: SPR as Green List (high evidence)
Undiagnosed metabolic disorders v1.311 SPR Catherine Snow Gene: spr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.310 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
Undiagnosed metabolic disorders v1.310 SLC25A12 Ivone Leong Classified gene: SLC25A12 as Green List (high evidence)
Undiagnosed metabolic disorders v1.310 SLC25A12 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.
Undiagnosed metabolic disorders v1.310 SLC25A12 Ivone Leong Gene: slc25a12 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.309 SLC25A12 Ivone Leong Phenotypes for gene: SLC25A12 were changed from Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders; Epileptic encephalopathy, early infantile, 39 612949; Hypomyelination, global cerebral, 612949
Undiagnosed metabolic disorders v1.308 SLC25A12 Ivone Leong Publications for gene: SLC25A12 were set to 27604308
Undiagnosed metabolic disorders v1.307 SDHC Ivone Leong reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.307 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Undiagnosed metabolic disorders v1.307 SC5D Ivone Leong Added comment: Comment on publications: There are >3 unrelated cases and an animal model.
Undiagnosed metabolic disorders v1.307 SC5D Ivone Leong Publications for gene: SC5D were set to 27604308
Undiagnosed metabolic disorders v1.306 SC5D Ivone Leong Classified gene: SC5D as Green List (high evidence)
Undiagnosed metabolic disorders v1.306 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.
Undiagnosed metabolic disorders v1.306 SC5D Ivone Leong Gene: sc5d has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.305 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.; 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.
Undiagnosed metabolic disorders v1.305 RNASEH2C Ivone Leong Classified gene: RNASEH2C as Red List (low evidence)
Undiagnosed metabolic disorders v1.305 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.
Undiagnosed metabolic disorders v1.305 RNASEH2C Ivone Leong Gene: rnaseh2c has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.304 RNASEH2B Ivone Leong Classified gene: RNASEH2B as Red List (low evidence)
Undiagnosed metabolic disorders v1.304 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.
Undiagnosed metabolic disorders v1.304 RNASEH2B Ivone Leong Gene: rnaseh2b has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.303 RNASEH2A Ivone Leong Classified gene: RNASEH2A as Red List (low evidence)
Undiagnosed metabolic disorders v1.303 RNASEH2A Ivone Leong Gene: rnaseh2a has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.302 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.
Undiagnosed metabolic disorders v1.302 RNASEH2A Ivone Leong commented on gene: RNASEH2A
Undiagnosed metabolic disorders v1.302 HARS2 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.302 HARS2 Sarah Leigh Phenotypes for gene: HARS2 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Perrault syndrome 2 614926 to ?Perrault syndrome 2 614926
Undiagnosed metabolic disorders v1.301 HARS2 Sarah Leigh Added comment: Comment on publications: PMID: 21464306: One family reported, with five affected siblings who were compound heterozygous for variants L200V and V368L. Functional evidence in c.elegans was provided. PMID: 27650058: patients with sporadic Perrault syndrome IV-1 and VI-I were homozygous for the c.1010A>G (p.Tyr337Cys) variant. The patients were claimed not to be related, but originated from the same region in Morocco and the variant was characterised as being in the same haplotype, suggesting a founder effect. Found at a frequency of 1/121332 in Exac.
Undiagnosed metabolic disorders v1.301 HARS2 Sarah Leigh Publications for gene: HARS2 were set to 27604308
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Classified gene: HARS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Added comment: Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green.
Undiagnosed metabolic disorders v1.300 HARS2 Sarah Leigh Gene: hars2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.299 FECH Sarah Leigh Added comment: Comment on phenotypes: Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity);Erythropoietic protoporphyria, mild variant
Undiagnosed metabolic disorders v1.299 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity); Erythropoietic protoporphyria, mild variant to Protoporphyria, erythropoietic, 1 177000
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Classified gene: FECH as Green List (high evidence)
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases.
Undiagnosed metabolic disorders v1.298 FECH Sarah Leigh Gene: fech has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.297 FECH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.297 DHODH Sarah Leigh Added comment: Comment on phenotypes: Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism);Bilateral microtia;Deafness and congenital structural abnormalities;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.297 DHODH Sarah Leigh Phenotypes for gene: DHODH were changed from Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism); Bilateral microtia; Deafness and congenital structural abnormalities; Unexplained skeletal dysplasia to Miller syndrome 263750
Undiagnosed metabolic disorders v1.296 DHODH Sarah Leigh Publications for gene: DHODH were set to 27604308
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Classified gene: DHODH as Green List (high evidence)
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Added comment: Comment on list classification: 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).
Undiagnosed metabolic disorders v1.295 DHODH Sarah Leigh Gene: dhodh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHODH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.294 DHCR24 Sarah Leigh Added comment: Comment on phenotypes: Desmosterolosis (Disorders of sterol biosynthesis);Intellectual disability;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.294 DHCR24 Sarah Leigh Phenotypes for gene: DHCR24 were changed from Desmosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Unexplained skeletal dysplasia to Desmosterolosis 602398
Undiagnosed metabolic disorders v1.293 DHCR24 Sarah Leigh Publications for gene: DHCR24 were set to 27604308
Undiagnosed metabolic disorders v1.292 DHCR24 Sarah Leigh Classified gene: DHCR24 as Green List (high evidence)
Undiagnosed metabolic disorders v1.292 DHCR24 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 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.
Undiagnosed metabolic disorders v1.292 DHCR24 Sarah Leigh Gene: dhcr24 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 DHCR24 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.291 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 inappropriately for diabetes mellitus with insulin (PMID 22042873).
Undiagnosed metabolic disorders v1.291 DCXR Sarah Leigh Phenotypes for gene: DCXR were changed from Essential pentosuria (Disorders of pentose metabolism); [Pentosuria] 260800 to [Pentosuria] 260800
Undiagnosed metabolic disorders v1.290 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Classified gene: DCXR as Green List (high evidence)
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.289 DCXR Sarah Leigh Gene: dcxr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.288 DCXR Sarah Leigh Classified gene: DCXR as Green List (high evidence)
Undiagnosed metabolic disorders v1.288 DCXR Sarah Leigh Gene: dcxr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.287 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
Undiagnosed metabolic disorders v1.287 CYP7B1 Sarah Leigh Tag treatable tag was added to gene: CYP7B1.
Undiagnosed metabolic disorders v1.287 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.286 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.285 PTS Ivone Leong Phenotypes for gene: PTS were changed from 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Intellectual disability to 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Intellectual disability; Hyperphenylalaninemia, BH4-deficient, A 261640
Undiagnosed metabolic disorders v1.284 PTS Ivone Leong Classified gene: PTS as Green List (high evidence)
Undiagnosed metabolic disorders v1.284 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.
Undiagnosed metabolic disorders v1.284 PTS Ivone Leong Gene: pts has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Classified gene: CYP7B1 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.283 CYP7B1 Sarah Leigh Gene: cyp7b1 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.282 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308 9802883 18252231 19187859
Undiagnosed metabolic disorders v1.281 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 9802883; 27604308
Undiagnosed metabolic disorders v1.280 CTSC Sarah Leigh Added comment: Comment on phenotypes: Other lysosomal disorders, Cathepsin-related disorders;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.280 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
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Classified gene: CTSC as Green List (high evidence)
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
Undiagnosed metabolic disorders v1.279 CTSC Sarah Leigh Gene: ctsc has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.278 CTSC Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.278 CLDN19 Sarah Leigh Added comment: Comment on phenotypes: Disorder of magnesium metabolism; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.278 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
Undiagnosed metabolic disorders v1.277 CLDN19 Sarah Leigh Publications for gene: CLDN19 were set to 27604308
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Classified gene: CLDN19 as Green List (high evidence)
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 6 unrelated cases.
Undiagnosed metabolic disorders v1.276 CLDN19 Sarah Leigh Gene: cldn19 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.275 CLDN19 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.275 CLDN16 Sarah Leigh Added comment: Comment on phenotypes: Disorder of magnesium metabolism; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.275 CLDN16 Sarah Leigh Phenotypes for gene: CLDN16 were changed from Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 3, renal 248250
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Classified gene: CLDN16 as Green List (high evidence)
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases.
Undiagnosed metabolic disorders v1.274 CLDN16 Sarah Leigh Gene: cldn16 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.273 CLDN16 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.273 CISD2 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only) ;Diabetes with additional phenotypes suggestive of a monogenic aetiology
Undiagnosed metabolic disorders v1.273 CISD2 Sarah Leigh Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Diabetes with additional phenotypes suggestive of a monogenic aetiology; Intellectual disability to Wolfram syndrome 2 604928
Undiagnosed metabolic disorders v1.272 CISD2 Sarah Leigh Publications for gene: CISD2 were set to 27604308
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Classified gene: CISD2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.271 CISD2 Sarah Leigh Gene: cisd2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 CISD2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.270 APOB Sarah Leigh Added comment: Comment on phenotypes: Familial hypobetalipoproteinaemia (Inherited hypolipidaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.270 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Classified gene: APOB as Green List (high evidence)
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.269 APOB Sarah Leigh Gene: apob has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.268 APOB Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Added comment: Comment on phenotypes: Hypophosphatasia (Disorders of pyridoxine metabolism);Craniosynostosis syndromes phenotypes;Osteogenesis Imperfecta;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Phenotypes for gene: ALPL were changed from Hypophosphatasia (Disorders of pyridoxine metabolism); Craniosynostosis syndromes phenotypes; Osteogenesis Imperfecta; Unexplained skeletal dysplasia to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300
Undiagnosed metabolic disorders v1.267 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Classified gene: ALPL as Green List (high evidence)
Undiagnosed metabolic disorders v1.266 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).
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Gene: alpl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Marked gene: IER3IP1 as ready
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Gene: ier3ip1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Classified gene: IER3IP1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.265 IER3IP1 Helen Brittain Gene: ier3ip1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.264 IER3IP1 Helen Brittain reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.264 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Undiagnosed metabolic disorders v1.264 ARSE Louise Daugherty commented on gene: ARSE
Undiagnosed metabolic disorders v1.264 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Undiagnosed metabolic disorders v1.264 GARS Louise Daugherty commented on gene: GARS
Undiagnosed metabolic disorders v1.264 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Undiagnosed metabolic disorders v1.264 KARS Louise Daugherty commented on gene: KARS
Undiagnosed metabolic disorders v1.264 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Undiagnosed metabolic disorders v1.264 DARS Louise Daugherty commented on gene: DARS
Undiagnosed metabolic disorders v1.264 ALDH3A2 Sarah Leigh Classified gene: ALDH3A2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.264 ALDH3A2 Sarah Leigh Gene: aldh3a2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.263 ALAS2 Sarah Leigh Classified gene: ALAS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.263 ALAS2 Sarah Leigh Gene: alas2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.262 ALAS2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.262 ADSL Sarah Leigh Classified gene: ADSL as Green List (high evidence)
Undiagnosed metabolic disorders v1.262 ADSL Sarah Leigh Gene: adsl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Classified gene: ADA as Green List (high evidence)
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Classified gene: ACY1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.259 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Undiagnosed metabolic disorders v1.259 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABCG8 Sarah Leigh Classified gene: ABCG8 as Green List (high evidence)
Undiagnosed metabolic disorders v1.258 ABCG8 Sarah Leigh Gene: abcg8 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.257 ABCG8 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.257 ABCG8 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.257 ABCG5 Sarah Leigh Classified gene: ABCG5 as Green List (high evidence)
Undiagnosed metabolic disorders v1.257 ABCG5 Sarah Leigh Gene: abcg5 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.256 ABCG5 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.256 ALDH3A2 Sarah Leigh edited their review of gene: ALDH3A2: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.; Changed rating: GREEN; Changed publications: 27604308, 10792573, 10577908; Changed phenotypes: Sjogren-Larsson syndrome 270200
Undiagnosed metabolic disorders v1.256 ALAS2 Sarah Leigh edited their review of gene: ALAS2: Added comment: 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 phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752
Undiagnosed metabolic disorders v1.256 ADSL Sarah Leigh edited their review of gene: ADSL: Added comment: 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.; Changed rating: GREEN; Changed publications: 27604308, 18830228, 12016589, 10090474; Changed phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy
Undiagnosed metabolic disorders v1.256 ADA Sarah Leigh edited their review of gene: ADA: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.; Changed rating: GREEN; Changed publications: 27604308, 3684597, 2783588, 1680289; Changed 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
Undiagnosed metabolic disorders v1.256 ACY1 Sarah Leigh edited their review of gene: ACY1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 9 unrelated cases.; Changed rating: GREEN; Changed publications: 27604308, 24117009, 17562838, 16465618; Changed phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability
Undiagnosed metabolic disorders v1.256 ABHD12 Sarah Leigh edited their review of gene: ABHD12: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 20797687, 24697911 ; Changed 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)
Undiagnosed metabolic disorders v1.256 ABCG8 Sarah Leigh edited their review of gene: ABCG8: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in numberous unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 11452359, 15996216, 11099417, 22981120; Changed phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.256 ABCG5 Sarah Leigh edited their review of gene: ABCG5: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 11099417, 11138003, 20719861, 17976197; Changed phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.255 PSPH Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.255 PSPH Sarah Leigh Phenotypes for gene: PSPH were changed from Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Intellectual disability; Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Classified gene: PSAT1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Gene: psat1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.253 PSAT1 Sarah Leigh Publications for gene: PSAT1 were set to 27604308
Undiagnosed metabolic disorders v1.252 PSAT1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.252 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
Undiagnosed metabolic disorders v1.251 PSAT1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Phenotypes for gene: PRPS1 were changed from Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Charcot-Marie-Tooth disease; Congenital hearing impairment (profound/severe); Intellectual disability; 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
Undiagnosed metabolic disorders v1.249 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
Undiagnosed metabolic disorders v1.248 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to 27604308
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Added comment: Comment on list classification: Two variants together with functional studies. 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.
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 POR Sarah Leigh Publications for gene: POR were set to 27604308
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Classified gene: POR as Green List (high evidence)
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Gene: por has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.244 POR Sarah Leigh Phenotypes for gene: POR were changed from Antley-Bixler syndrome with disordered steroidogenesis; Craniosynostosis syndromes phenotypes; Disorders of sex development; Unexplained skeletal dysplasia to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Added comment: Comment on phenotypes: Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism);SCID
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Phenotypes for gene: PNP were changed from Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism); SCID to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Undiagnosed metabolic disorders v1.240 PNP Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Classified gene: PINK1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Gene: pink1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.239 PINK1 Sarah Leigh Added comment: Comment on publications: Many more publications
Undiagnosed metabolic disorders v1.239 PINK1 Sarah Leigh Publications for gene: PINK1 were set to 27604308
Undiagnosed metabolic disorders v1.238 PINK1 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Undiagnosed metabolic disorders v1.238 PINK1 Sarah Leigh Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Early onset dystonia; Parkinson Disease and Complex Parkinsonism to Parkinson disease 6, early onset 605909
Undiagnosed metabolic disorders v1.237 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.237 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Added comment: Comment on list classification: 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).
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.236 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 25293775; 16767100
Undiagnosed metabolic disorders v1.235 PIGM Sarah Leigh Added comment: Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Undiagnosed metabolic disorders v1.235 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 to Glycosylphosphatidylinositol deficiency 610293
Undiagnosed metabolic disorders v1.234 PHGDH Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Classified gene: PHGDH as Green List (high evidence)
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.232 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.232 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Intellectual disability; Unexplained skeletal dysplasia to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.231 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.229 PEPD Sarah Leigh Added comment: Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)
Undiagnosed metabolic disorders v1.229 PEPD Sarah Leigh Phenotypes for gene: PEPD were changed from Prolidase deficiency (Other disorders of peptide metabolism); Intellectual disability to Prolidase deficiency 170100
Undiagnosed metabolic disorders v1.228 PEPD Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Classified gene: PDPR as Red List (low evidence)
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Gene: pdpr has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.227 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.
Undiagnosed metabolic disorders v1.227 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
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.225 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308
Undiagnosed metabolic disorders v1.224 PCSK9 Sarah Leigh Added comment: Comment on phenotypes: (Inherited hypercholesterolaemias)
Undiagnosed metabolic disorders v1.224 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776
Undiagnosed metabolic disorders v1.223 PCSK9 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.223 PCK1 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 unrelated cases.
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.222 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308
Undiagnosed metabolic disorders v1.221 PCK1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Undiagnosed metabolic disorders v1.221 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
Undiagnosed metabolic disorders v1.220 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308
Undiagnosed metabolic disorders v1.219 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (NBIA) (Disorder of iron metabolism);Early onset dystonia;Parkinson Disease and Complex Parkinsonism;Posterior segment abnormalities
Undiagnosed metabolic disorders v1.219 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.217 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (Disorder of iron metabolism);Early onset dystonia;Parkinson Disease and Complex Parkinsonism;Posterior segment abnormalities
Undiagnosed metabolic disorders v1.217 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 OPLAH Sarah Leigh Classified gene: OPLAH as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.216 OPLAH 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 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.
Undiagnosed metabolic disorders v1.216 OPLAH Sarah Leigh Gene: oplah has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.215 OPLAH Sarah Leigh Publications for gene: OPLAH were set to 27604308
Undiagnosed metabolic disorders v1.214 OPLAH Sarah Leigh Added comment: Comment on phenotypes: Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
Undiagnosed metabolic disorders v1.214 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
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.212 OCRL Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Cataracts;Intellectual disability;Intellectual_disability;Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.212 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Cataracts; Intellectual disability; Intellectual_disability; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Dent disease 2 300555; Lowe syndrome 309000
Undiagnosed metabolic disorders v1.211 OCRL Sarah Leigh Publications for gene: OCRL were set to 27604308
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 NDUFB9 Sarah Leigh Classified gene: NDUFB9 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.210 NDUFB9 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, together with supportive functional studies.
Undiagnosed metabolic disorders v1.210 NDUFB9 Sarah Leigh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.209 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.
Undiagnosed metabolic disorders v1.209 NDUFB9 Sarah Leigh Publications for gene: NDUFB9 were set to 27604308
Undiagnosed metabolic disorders v1.208 NDUFB9 Sarah Leigh Phenotypes for gene: NDUFB9 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 24 618245
Undiagnosed metabolic disorders v1.207 MVK Sarah Leigh Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.206 MVK 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 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.; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants reported for each phenotype.
Undiagnosed metabolic disorders v1.206 MVK Sarah Leigh Publications for gene: MVK were set to 27604308
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Classified gene: MVK as Green List (high evidence)
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Gene: mvk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Added comment: Comment on phenotypes: Mevalonate kinase deficiency (Disorders of sterol biosynthesis);Infantile enterocolitis & monogenic inflammatory bowel disease
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Phenotypes for gene: MVK were changed from Mevalonate kinase deficiency (Disorders of sterol biosynthesis); Infantile enterocolitis & monogenic inflammatory bowel disease to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900
Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); ?Spastic ataxia 4, autosomal recessive, 613672 to ?Spastic ataxia 4, autosomal recessive, 613672
Undiagnosed metabolic disorders v1.202 MTPAP Sarah Leigh Publications for gene: MTPAP were set to 27604308
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Classified gene: MTFMT as Green List (high evidence)
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported.
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Gene: mtfmt has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.199 MTFMT Sarah Leigh Publications for gene: MTFMT were set to 27604308
Undiagnosed metabolic disorders v1.198 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)).
Undiagnosed metabolic disorders v1.198 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders to Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Undiagnosed metabolic disorders v1.197 MTFMT Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Classified gene: MRPL3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Added comment: Comment on list classification: This gene was rated as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Gene: mrpl3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.196 MRPL3 Sarah Leigh Publications for gene: MRPL3 were set to 27604308
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Undiagnosed metabolic disorders v1.194 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.194 MOCS2 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 at least 8 unrelated cases, together with supportive functional studies.
Undiagnosed metabolic disorders v1.194 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.193 MOCS2 Sarah Leigh Publications for gene: MOCS2 were set to 27604308
Undiagnosed metabolic disorders v1.192 MOCS2 Sarah Leigh Added comment: Comment on phenotypes: Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.192 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism); Intellectual disability to Molybdenum cofactor deficiency B 252160
Undiagnosed metabolic disorders v1.191 MOCS2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported unrelated cases.
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.190 MOCS1 Sarah Leigh Publications for gene: MOCS1 were set to 27604308
Undiagnosed metabolic disorders v1.189 MOCS1 Sarah Leigh Added comment: Comment on phenotypes: Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.189 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism); Intellectual disability to Molybdenum cofactor deficiency A 252150
Undiagnosed metabolic disorders v1.188 MOCS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.188 MAOA Sarah Leigh Publications for gene: MAOA were set to 27604308
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.186 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Classified gene: MAGT1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Added comment: Comment on list classification: 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).
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Gene: magt1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.184 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: IAP-CDG (Disorders of protein N-glycosylation)
Undiagnosed metabolic disorders v1.184 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from IAP-CDG (Disorders of protein N-glycosylation); Combined B and T cell defect to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
Undiagnosed metabolic disorders v1.183 MAGT1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.183 LIPC 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 families with Hepatic lipase deficiency, 614025.
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.182 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.
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.181 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Undiagnosed metabolic disorders v1.180 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
Undiagnosed metabolic disorders v1.179 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308
Undiagnosed metabolic disorders v1.178 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Classified gene: LDLRAP1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Gene: ldlrap1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.176 LDLRAP1 Sarah Leigh Publications for gene: LDLRAP1 were set to 27604308
Undiagnosed metabolic disorders v1.175 LDLRAP1 Sarah Leigh Added comment: Comment on phenotypes: Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.175 LDLRAP1 Sarah Leigh Phenotypes for gene: LDLRAP1 were changed from Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 4 603813
Undiagnosed metabolic disorders v1.174 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308; 27821657
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Classified gene: LDLR as Green List (high evidence)
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Gene: ldlr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.172 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Added comment: Comment on phenotypes: Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Phenotypes for gene: LDLR were changed from Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890
Undiagnosed metabolic disorders v1.170 LBR Sarah Leigh Publications for gene: LBR were set to 27604308
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Classified gene: LBR as Green List (high evidence)
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Gene: lbr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Fetal hydrops;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Fetal hydrops; Unexplained skeletal dysplasia to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.166 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Undiagnosed metabolic disorders v1.166 ISCU Sarah Leigh Publications for gene: ISCU were set to 27604308
Undiagnosed metabolic disorders v1.165 ISCU Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.164 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to 27604308
Undiagnosed metabolic disorders v1.163 HSD17B10 Sarah Leigh Added comment: Comment on phenotypes: 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual disability;Intellectual_disability
Undiagnosed metabolic disorders v1.163 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual disability; Intellectual_disability to HSD10 mitochondrial disease 300438
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.162 HPS1 Sarah Leigh Publications for gene: HPS1 were set to 27604308
Undiagnosed metabolic disorders v1.161 HPS1 Sarah Leigh Classified gene: HPS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.161 HPS1 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 at least 5 unrelated cases.
Undiagnosed metabolic disorders v1.161 HPS1 Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Added comment: Comment on phenotypes: Hermansky-Pudlak Syndrome (Other lysosomal disorders);Infantile enterocolitis & monogenic inflammatory bowel disease;Inherited bleeding disorders
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak Syndrome (Other lysosomal disorders); Infantile enterocolitis & monogenic inflammatory bowel disease; Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300
Undiagnosed metabolic disorders v1.159 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Classified gene: HPD as Green List (high evidence)
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Added comment: Comment on list classification: 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).
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Gene: hpd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.157 HPD Sarah Leigh Publications for gene: HPD were set to 27604308
Undiagnosed metabolic disorders v1.156 HPD Sarah Leigh Added comment: Comment on phenotypes: 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.156 HPD Sarah Leigh Phenotypes for gene: HPD were changed from 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism); Intellectual disability to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Undiagnosed metabolic disorders v1.155 HPD Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Classified gene: HADH as Green List (high evidence)
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Gene: hadh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.154 HADH Sarah Leigh Publications for gene: HADH were set to 27604308
Undiagnosed metabolic disorders v1.153 HADH Sarah Leigh Added comment: Comment on phenotypes: 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);Hyperinsulinism;Intellectual disability
Undiagnosed metabolic disorders v1.153 HADH Sarah Leigh Phenotypes for gene: HADH were changed from 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Hyperinsulinism; Intellectual disability to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.152 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Undiagnosed metabolic disorders v1.152 GNMT 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 2 unrelated cases, with supportive functional data.
Undiagnosed metabolic disorders v1.152 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.151 GNMT Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255
Undiagnosed metabolic disorders v1.150 GLUL Sarah Leigh Classified gene: GLUL as Green List (high evidence)
Undiagnosed metabolic disorders v1.150 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.
Undiagnosed metabolic disorders v1.150 GLUL Sarah Leigh Gene: glul has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.149 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308
Undiagnosed metabolic disorders v1.148 GLUL Sarah Leigh Added comment: Comment on phenotypes: Glutamine deficiency, congenital (Other disorder of amino acid metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.148 GLUL Sarah Leigh Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital (Other disorder of amino acid metabolism); Intellectual disability to Glutamine deficiency, congenital 610015
Undiagnosed metabolic disorders v1.147 GLUL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Publications for gene: GK were set to 27604308
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Undiagnosed metabolic disorders v1.145 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.144 GK Sarah Leigh Added comment: Comment on mode of inheritance: This moi has been changed to be in with OMIM and Gen2Phen.
Undiagnosed metabolic disorders v1.144 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
Undiagnosed metabolic disorders v1.143 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
Undiagnosed metabolic disorders v1.142 GK Sarah Leigh Added comment: Comment on phenotypes: Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disability
Undiagnosed metabolic disorders v1.142 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
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.141 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.141 GAMT Sarah Leigh Publications for gene: GAMT were set to 27604308
Undiagnosed metabolic disorders v1.140 GAMT Sarah Leigh Classified gene: GAMT as Green List (high evidence)
Undiagnosed metabolic disorders v1.140 GAMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.
Undiagnosed metabolic disorders v1.140 GAMT Sarah Leigh Gene: gamt has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.139 FTCD Sarah Leigh Publications for gene: FTCD were set to 27604308
Undiagnosed metabolic disorders v1.138 FTCD Sarah Leigh Classified gene: FTCD as Green List (high evidence)
Undiagnosed metabolic disorders v1.138 FTCD Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 15 variants reported.
Undiagnosed metabolic disorders v1.138 FTCD Sarah Leigh Gene: ftcd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.137 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
Undiagnosed metabolic disorders v1.136 FGFR2 Sarah Leigh Classified gene: FGFR2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.136 FGFR2 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.136 FGFR2 Sarah Leigh Gene: fgfr2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.135 FGFR2 Sarah Leigh Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome type without disordered steroidogenesis; Arthrogryposis; Bilateral microtia; Choanal atresia; Craniosynostosis syndromes phenotypes; Deafness and congenital structural abnormalities; 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
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 FGFR2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.134 DPM3 Sarah Leigh Phenotypes for gene: DPM3 were changed from DMP3-CDG (other congenital disorders of glycosylation); Congenital disorder of glycosylation, type Io 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Undiagnosed metabolic disorders v1.133 DPM3 Sarah Leigh Publications for gene: DPM3 were set to 27604308
Undiagnosed metabolic disorders v1.132 DPM3 Sarah Leigh Classified gene: DPM3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.132 DPM3 Sarah Leigh Added comment: Comment on list classification: 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.
Undiagnosed metabolic disorders v1.132 DPM3 Sarah Leigh Gene: dpm3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.131 DHDDS Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.131 DHDDS Sarah Leigh changed review comment from: Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s); to: Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Undiagnosed metabolic disorders v1.131 TANGO2 Sarah Leigh Classified gene: TANGO2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.131 TANGO2 Sarah Leigh Added comment: Comment on list classification: Based on recommendations of Helen Britain (Clinical Fellow, Genomics England) as cases will have of periods of decompensation that are associated with hypoglycaemia and hyperammonaemia.
Undiagnosed metabolic disorders v1.131 TANGO2 Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.130 TANGO2 Sarah Leigh gene: TANGO2 was added
gene: TANGO2 was added to Undiagnosed metabolic disorders. Sources: Other
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Review for gene: TANGO2 was set to GREEN
Added comment: Sources: Other
Undiagnosed metabolic disorders v1.129 STAT2 Sarah Leigh Classified gene: STAT2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.129 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.
Undiagnosed metabolic disorders v1.129 STAT2 Sarah Leigh Gene: stat2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.128 STAT2 Sarah Leigh gene: STAT2 was added
gene: STAT2 was added to Undiagnosed metabolic disorders. Sources: Other
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT2 were set to Immunodeficiency 44 616636
Review for gene: STAT2 was set to AMBER
Added comment: Sources: Other
Undiagnosed metabolic disorders v1.127 IER3IP1 Sarah Leigh Classified gene: IER3IP1 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.127 IER3IP1 Sarah Leigh Added comment: Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that patients will present with features of microcephaly / neonatal diabetes / developmental delay, rather than metabolic disorder.
Undiagnosed metabolic disorders v1.127 IER3IP1 Sarah Leigh Gene: ier3ip1 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.126 IER3IP1 Sarah Leigh gene: IER3IP1 was added
gene: IER3IP1 was added to Undiagnosed metabolic disorders. Sources: Other
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 21835305; 22991235; 24138066
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231
Review for gene: IER3IP1 was set to AMBER
Added comment: Sources: Other
Undiagnosed metabolic disorders v1.125 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 27604308
Undiagnosed metabolic disorders v1.124 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).
Undiagnosed metabolic disorders v1.124 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
Undiagnosed metabolic disorders v1.123 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.122 FXN Sarah Leigh Classified gene: FXN as Green List (high evidence)
Undiagnosed metabolic disorders v1.122 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.
Undiagnosed metabolic disorders v1.122 FXN Sarah Leigh Gene: fxn has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.121 FXN Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.121 RANBP2 Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.121 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.
Undiagnosed metabolic disorders v1.121 RANBP2 Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.120 PGAM2 Sarah Leigh changed review comment from: Comment on list classification: Additional case with biallelic variant and rhabdomyolysis; to: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Undiagnosed metabolic disorders v1.120 MANBA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Classified gene: DHCR7 as Green List (high evidence)
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Gene: dhcr7 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 SDHB Sarah Leigh Added comment: Comment on phenotypes: Cowden syndrome 2, 612359 has been removed from SDHB as this gene is not associated with this phenotype.
Undiagnosed metabolic disorders v1.119 SDHB Sarah Leigh Phenotypes for gene: SDHB were changed from Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases
Undiagnosed metabolic disorders v1.118 FUT8 Louise Daugherty Classified gene: FUT8 as Green List (high evidence)
Undiagnosed metabolic disorders v1.118 FUT8 Louise Daugherty Gene: fut8 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.117 FUT8 Louise Daugherty gene: FUT8 was added
gene: FUT8 was added to Undiagnosed metabolic disorders. Sources: Expert Review
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Review for gene: FUT8 was set to GREEN
Added comment: Adding to Undiagnosed metabolic disorders panel after reviewing panels for GMS, as recommended by the Genomics England clinical team, to benefit the 100K participants. Enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Sources: Expert Review
Undiagnosed metabolic disorders v1.116 HYAL1 Sarah Leigh Added comment: Comment on phenotypes: MPS IX, Natowicz (MPS IV, Morquio disease)
Undiagnosed metabolic disorders v1.116 HYAL1 Sarah Leigh Phenotypes for gene: HYAL1 were changed from MPS IX, Natowicz (MPS IV, Morquio disease); ?Mucopolysaccharidosis type IX, 601492 to ?Mucopolysaccharidosis type IX, 601492
Undiagnosed metabolic disorders v1.115 HYAL1 Sarah Leigh Publications for gene: HYAL1 were set to 27604308
Undiagnosed metabolic disorders v1.114 ARSG Sarah Leigh changed review comment from: Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice models (PubMed: 20679209, 22689975, 25452429, 26975023) and in a ; to: Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice models (PubMed: 20679209, 22689975, 25452429, 26975023) and in 5 affected members of 3 consanguineous Yemenite Jewish families (PMID 29300381).
Undiagnosed metabolic disorders v1.114 ARSG Sarah Leigh Mode of inheritance for gene: ARSG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.113 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Undiagnosed metabolic disorders v1.112 ARSG Sarah Leigh changed review comment from: Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice; to: Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice models (PubMed: 20679209, 22689975, 25452429, 26975023) and in a
Undiagnosed metabolic disorders v1.112 ARSG Sarah Leigh Added comment: Comment on phenotypes: Including neuronal ceroid lipofuscinosis
Undiagnosed metabolic disorders v1.112 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from neuronal ceroid lipofuscinosis to Usher syndrome, type IV 618144
Undiagnosed metabolic disorders v1.109 UQCRQ Sarah Leigh Phenotypes for gene: UQCRQ were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 4, 615159
Undiagnosed metabolic disorders v1.108 UQCRQ Sarah Leigh Publications for gene: UQCRQ were set to 27604308; 18439546
Undiagnosed metabolic disorders v1.107 UQCRQ Sarah Leigh Publications for gene: UQCRQ were set to 27604308
Undiagnosed metabolic disorders v1.106 UQCRQ Sarah Leigh Classified gene: UQCRQ as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.106 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).
Undiagnosed metabolic disorders v1.106 UQCRQ Sarah Leigh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.105 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Undiagnosed metabolic disorders v1.105 APOPT1 Louise Daugherty commented on gene: APOPT1
Undiagnosed metabolic disorders v1.105 UQCRB Rebecca Foulger Publications for gene: UQCRB were set to 27604308
Undiagnosed metabolic disorders v1.104 UQCRB Sarah Leigh reviewed gene: UQCRB: Rating: ; Mode of pathogenicity: None; Publications: 28604960, 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3 615158; Mode of inheritance: None
Undiagnosed metabolic disorders v1.104 MANBA Sarah Leigh Classified gene: MANBA as Green List (high evidence)
Undiagnosed metabolic disorders v1.104 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.
Undiagnosed metabolic disorders v1.104 MANBA Sarah Leigh Gene: manba has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.103 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Fetal hydrops; Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950; Farber lipogranulomatosis 228000; Fetal hydrops; Intellectual disability
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.102 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.
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.101 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308
Undiagnosed metabolic disorders v1.100 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023
Undiagnosed metabolic disorders v1.99 PGAM2 Sarah Leigh Publications for gene: PGAM2 were set to 27604308
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Added comment: Comment on list classification: Additional case with biallelic variant and rhabdomyolysis
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.97 PGAM2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.97 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].
Undiagnosed metabolic disorders v1.97 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)
Undiagnosed metabolic disorders v1.96 ATP13A2 Sarah Leigh Publications for gene: ATP13A2 were set to 27604308; 16964263; 27217339
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Classified gene: ATAD3A as Green List (high evidence)
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team and the clinical team: Sufficient evidence has been provided by the external expert review for this gene to be rated green.
Other aspects of the phenotype may warrant for this gene to be included on alternative specific panels (i.e. intellectual disability); however, not enough evidence is available at the moment. Therefore, this gene has also been added to the "watchlist" so that more cases can be collected.
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Gene: atad3a has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Tag watchlist tag was added to gene: ATAD3A.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Added comment: Comment on mode of pathogenicity: There is a recurrent missense variant thought to act in a dominant negative manner.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Mode of pathogenicity for gene: ATAD3A was changed from None to Other
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Added comment: Comment on mode of inheritance: As the carrier parents of the biallelic cases do not appear to have any phenotype, have given this a biallelic mode of inheritance.
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green as agreed with Helen Brittain following review of 2018 paper (PMID:30115659) and promotion to Green on the 'Congenital disorders of glycosylation' panel. In addition to the 'leaky' polymorphism reported in PMID:15576474, there are 3 cases (PMIDs 23873973, 28856833, 30115659) to support causation of glycosylation disorder.
Undiagnosed metabolic disorders v1.92 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.91 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308
Undiagnosed metabolic disorders v1.90 ATAD3A Julia Baptista gene: ATAD3A was added
gene: ATAD3A was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Lactic acidosis; Methylglutaconic aciduria; Neurological abnormalities; Cerebellar hypoplasia; Optic atrophy; Hypertrophic cardiomyopathy; Scoliosis; Spinal muscular atrophy
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: A raised plasma lactate was reported in 4/7 families and methylglutaconic aciduria in 3/7 families (PMID: 27640307). Multiple patients with a diagnosis are described as having "severe metabolic disease".
Sources: Literature
Undiagnosed metabolic disorders v1.90 ISPD Louise Daugherty commented on gene: ISPD
Undiagnosed metabolic disorders v1.90 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Undiagnosed metabolic disorders v1.90 RRM2B Rebecca Foulger Phenotypes for gene: RRM2B were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive) to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive)
Undiagnosed metabolic disorders v1.89 SSR4 Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934
Undiagnosed metabolic disorders v1.88 TWNK Rebecca Foulger Phenotypes for gene: TWNK were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ; Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; 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); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic)
Undiagnosed metabolic disorders v1.87 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Undiagnosed metabolic disorders v1.86 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Undiagnosed metabolic disorders v1.85 BCS1L Eleanor Williams Phenotypes for gene: BCS1L were changed from Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency
Undiagnosed metabolic disorders v1.84 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Undiagnosed metabolic disorders v1.83 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Undiagnosed metabolic disorders v1.82 GLS Saikat Santra reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29468182; Phenotypes: Intellectual disability, Ataxia, Optic Atrophy; Mode of inheritance: None
Undiagnosed metabolic disorders v1.82 UPB1 Saikat Santra reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24526388, 25638458, 22525402; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.82 BCAT2 Saikat Santra reviewed gene: BCAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25653144; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.82 GAMT Saikat Santra reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Creatine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.82 DHCR7 Saikat Santra reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysmorphism, Cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.82 RPIA Sarah Leigh commented on gene: RPIA: Review by Konstantinos Varvagiannis for the Genetic Epilepsy syndromes panel. 9 Dec 2018, 1:44 a.m.
Panel version: 0.1488
Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611. PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T or p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG or p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548]. PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis. PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis. 2 of the 3 patients described in the literature presented seizures. As a result this gene can be considered for inclusion in this panel as amber. [This gene is also present in the Undiagnosed metabolic disorders gene panel as red. Please consider upgrade based on these further publications.]. Sources: Literature
Undiagnosed metabolic disorders v1.82 RPIA Sarah Leigh Publications for gene: RPIA were set to 27604308
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Classified gene: RPIA as Green List (high evidence)
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Added comment: Comment on list classification: Based on additional variants reported in PMIDs 28801340; 30088433.
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Gene: rpia has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.80 RPIA Sarah Leigh Classified gene: RPIA as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.80 RPIA Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty commented on gene: MUT
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty commented on gene: GIF
Undiagnosed metabolic disorders v1.78 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Undiagnosed metabolic disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Undiagnosed metabolic disorders SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Undiagnosed metabolic disorders ATP7A Ellen McDonagh commented on gene: ATP7A
Undiagnosed metabolic disorders GPD1 Ellen McDonagh classified GPD1 as Green List (high evidence)
Undiagnosed metabolic disorders GPD1 Ellen McDonagh Added gene to panel
Undiagnosed metabolic disorders ATXN7 Ellen McDonagh commented on STR: ATXN7_CAG
Undiagnosed metabolic disorders ATXN7 Ellen McDonagh Added STR to panel
Undiagnosed metabolic disorders UGT1A1 Ellen McDonagh commented on UGT1A1
Undiagnosed metabolic disorders OTC Ellen McDonagh commented on OTC
Undiagnosed metabolic disorders MT-ND4 Ellen McDonagh commented on MT-ND4
Undiagnosed metabolic disorders ADA Ellen McDonagh commented on ADA
Undiagnosed metabolic disorders ABCD1 Ellen McDonagh commented on ABCD1
Undiagnosed metabolic disorders PEX11A Louise Daugherty edited their review of PEX11A
Undiagnosed metabolic disorders PEX11A Louise Daugherty Added gene to panel
Undiagnosed metabolic disorders HFE2 Louise Daugherty commented on HFE2
Undiagnosed metabolic disorders TMEM5 Louise Daugherty commented on TMEM5
Undiagnosed metabolic disorders ATP5A1 Louise Daugherty commented on ATP5A1
Undiagnosed metabolic disorders ATP5E Louise Daugherty commented on ATP5E
Undiagnosed metabolic disorders DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Undiagnosed metabolic disorders DNAJC19 Ellen McDonagh commented on DNAJC19
Undiagnosed metabolic disorders RPL10 Sarah Leigh classified RPL10 as green
Undiagnosed metabolic disorders RPL10 Sarah Leigh added RPL10 to panel
Undiagnosed metabolic disorders RPL10 Sarah Leigh reviewed RPL10
Undiagnosed metabolic disorders KYNU Ellen McDonagh classified KYNU as green
Undiagnosed metabolic disorders HAAO Ellen McDonagh classified HAAO as green
Undiagnosed metabolic disorders HTRA2 Sarah Leigh classified HTRA2 as green
Undiagnosed metabolic disorders HTRA2 Sarah Leigh added HTRA2 to panel
Undiagnosed metabolic disorders HTRA2 Sarah Leigh reviewed HTRA2
Undiagnosed metabolic disorders HAAO Ellen McDonagh classified HAAO as amber
Undiagnosed metabolic disorders HAAO Ellen McDonagh added HAAO to panel
Undiagnosed metabolic disorders HAAO Ellen McDonagh reviewed HAAO
Undiagnosed metabolic disorders KYNU Ellen McDonagh classified KYNU as amber
Undiagnosed metabolic disorders KYNU Ellen McDonagh commented on KYNU
Undiagnosed metabolic disorders EPG5 Ellen McDonagh classified EPG5 as green
Undiagnosed metabolic disorders EPG5 Ellen McDonagh added EPG5 to panel
Undiagnosed metabolic disorders EPG5 Ellen McDonagh reviewed EPG5
Undiagnosed metabolic disorders NGLY1 Ellen McDonagh classified NGLY1 as green
Undiagnosed metabolic disorders NGLY1 Ellen McDonagh added NGLY1 to panel
Undiagnosed metabolic disorders NGLY1 Ellen McDonagh reviewed NGLY1
Undiagnosed metabolic disorders DBH Louise Daugherty commented on DBH
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger classified DNAJC12 as green
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger classified DNAJC12 as green
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger added DNAJC12 to panel
Undiagnosed metabolic disorders DNAJC12 Rebecca Foulger reviewed DNAJC12
Undiagnosed metabolic disorders IDH2 Ellen McDonagh commented on IDH2
Undiagnosed metabolic disorders PIGT Sarah Leigh classified PIGT as green
Undiagnosed metabolic disorders PIGT Sarah Leigh added PIGT to panel
Undiagnosed metabolic disorders PIGT Sarah Leigh reviewed PIGT
Undiagnosed metabolic disorders TM6SF2 Sarah Leigh added TM6SF2 to panel
Undiagnosed metabolic disorders TM6SF2 Sarah Leigh reviewed TM6SF2
Undiagnosed metabolic disorders ATP7A Sarah Leigh commented on ATP7A
Undiagnosed metabolic disorders ATP7A Louise Daugherty commented on ATP7A
Undiagnosed metabolic disorders CBS Louise Daugherty commented on CBS
Undiagnosed metabolic disorders ATP7A Sarah Leigh classified ATP7A as green
Undiagnosed metabolic disorders ABCG2 Sarah Leigh edited their review of ABCG2
Undiagnosed metabolic disorders HPRT1 Sarah Leigh classified HPRT1 as green
Undiagnosed metabolic disorders SLC35A2 Ellen McDonagh commented on SLC35A2
Undiagnosed metabolic disorders NSDHL Ellen McDonagh commented on NSDHL
Undiagnosed metabolic disorders EBP Ellen McDonagh commented on EBP
Undiagnosed metabolic disorders SLC5A1 Sarah Leigh commented on SLC5A1
Undiagnosed metabolic disorders SLC39A4 Sarah Leigh commented on SLC39A4
Undiagnosed metabolic disorders RANBP2 Sarah Leigh commented on RANBP2
Undiagnosed metabolic disorders WDR45 Sarah Leigh marked WDR45 as ready
Undiagnosed metabolic disorders WDR45 Sarah Leigh classified WDR45 as green
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh classified SLC39A14 as green
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh added SLC39A14 to panel
Undiagnosed metabolic disorders SLC39A14 Sarah Leigh reviewed SLC39A14
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh commented on SLC30A10
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh classified PLA2G6 as green
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh commented on PLA2G6
Undiagnosed metabolic disorders FA2H Sarah Leigh marked FA2H as ready
Undiagnosed metabolic disorders FA2H Sarah Leigh classified FA2H as green
Undiagnosed metabolic disorders CP Sarah Leigh marked CP as ready
Undiagnosed metabolic disorders CP Sarah Leigh classified CP as green
Undiagnosed metabolic disorders ATP7B Sarah Leigh marked ATP7B as ready
Undiagnosed metabolic disorders ATP7B Sarah Leigh classified ATP7B as green
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh marked ATP13A2 as ready
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh classified ATP13A2 as green
Undiagnosed metabolic disorders ADAR Sarah Leigh marked ADAR as ready
Undiagnosed metabolic disorders ADAR Sarah Leigh classified ADAR as green
Undiagnosed metabolic disorders PREPL Ellen McDonagh commented on PREPL
Undiagnosed metabolic disorders PIGM Ellen McDonagh commented on PIGM
Undiagnosed metabolic disorders PDPR Ellen McDonagh commented on PDPR
Undiagnosed metabolic disorders HYAL1 Sarah Leigh classified HYAL1 as green
Undiagnosed metabolic disorders HSD3B7 Sarah Leigh commented on HSD3B7
Undiagnosed metabolic disorders DPYD Sarah Leigh commented on DPYD
Undiagnosed metabolic disorders DBH Sarah Leigh commented on DBH
Undiagnosed metabolic disorders DBH Sarah Leigh classified DBH as green
Undiagnosed metabolic disorders Sarah Leigh promoted panel to version 1
Undiagnosed metabolic disorders SLC22A4 Sarah Leigh added SLC22A4 to panel
Undiagnosed metabolic disorders SLC22A4 Sarah Leigh reviewed SLC22A4
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh classified SLCO1B3 as red
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh added SLCO1B3 to panel
Undiagnosed metabolic disorders SLCO1B3 Sarah Leigh reviewed SLCO1B3
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh classified SLCO1B1 as red
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh added SLCO1B1 to panel
Undiagnosed metabolic disorders SLCO1B1 Sarah Leigh reviewed SLCO1B1
Undiagnosed metabolic disorders SLC6A20 Sarah Leigh added SLC6A20 to panel
Undiagnosed metabolic disorders SLC6A20 Sarah Leigh reviewed SLC6A20
Undiagnosed metabolic disorders GGT1 Sarah Leigh commented on GGT1
Undiagnosed metabolic disorders DLST Sarah Leigh commented on DLST
Undiagnosed metabolic disorders XDH Helen Brittain reviewed XDH
Undiagnosed metabolic disorders USF1 Helen Brittain reviewed USF1
Undiagnosed metabolic disorders UROS Helen Brittain reviewed UROS
Undiagnosed metabolic disorders UROD Helen Brittain reviewed UROD
Undiagnosed metabolic disorders UQCRB Helen Brittain reviewed UQCRB
Undiagnosed metabolic disorders UPB1 Helen Brittain reviewed UPB1
Undiagnosed metabolic disorders UGT1A1 Helen Brittain reviewed UGT1A1
Undiagnosed metabolic disorders TUFM Helen Brittain reviewed TUFM
Undiagnosed metabolic disorders TSFM Helen Brittain reviewed TSFM
Undiagnosed metabolic disorders TRPM6 Helen Brittain reviewed TRPM6
Undiagnosed metabolic disorders TREH Helen Brittain reviewed TREH
Undiagnosed metabolic disorders TPMT Helen Brittain reviewed TPMT
Undiagnosed metabolic disorders TMEM126A Helen Brittain reviewed TMEM126A
Undiagnosed metabolic disorders TFR2 Helen Brittain reviewed TFR2
Undiagnosed metabolic disorders TDO2 Helen Brittain reviewed TDO2
Undiagnosed metabolic disorders TCN1 Helen Brittain reviewed TCN1
Undiagnosed metabolic disorders SUGCT Helen Brittain reviewed SUGCT
Undiagnosed metabolic disorders SUCLG2 Arianna Tucci reviewed SUCLG2
Undiagnosed metabolic disorders SLC5A1 Arianna Tucci reviewed SLC5A1
Undiagnosed metabolic disorders SLC40A1 Arianna Tucci reviewed SLC40A1
Undiagnosed metabolic disorders SLC39A8 Arianna Tucci reviewed SLC39A8
Undiagnosed metabolic disorders SLC39A4 Arianna Tucci reviewed SLC39A4
Undiagnosed metabolic disorders SLC36A2 Arianna Tucci reviewed SLC36A2
Undiagnosed metabolic disorders SLC35A1 Arianna Tucci reviewed SLC35A1
Undiagnosed metabolic disorders SLC27A5 Arianna Tucci reviewed SLC27A5
Undiagnosed metabolic disorders SLC25A3 Arianna Tucci reviewed SLC25A3
Undiagnosed metabolic disorders SLC25A2 Arianna Tucci reviewed SLC25A2
Undiagnosed metabolic disorders SLC25A1 Arianna Tucci reviewed SLC25A1
Undiagnosed metabolic disorders SLC18A2 Arianna Tucci reviewed SLC18A2
Undiagnosed metabolic disorders SI Arianna Tucci reviewed SI
Undiagnosed metabolic disorders SHPK Arianna Tucci reviewed SHPK
Undiagnosed metabolic disorders SCARB1 Arianna Tucci reviewed SCARB1
Undiagnosed metabolic disorders SARDH Arianna Tucci reviewed SARDH
Undiagnosed metabolic disorders SAR1B Arianna Tucci reviewed SAR1B
Undiagnosed metabolic disorders RPIA Olivia Niblock reviewed RPIA
Undiagnosed metabolic disorders RANBP2 Olivia Niblock reviewed RANBP2
Undiagnosed metabolic disorders PUS1 Olivia Niblock reviewed PUS1
Undiagnosed metabolic disorders PTPRZ1 Olivia Niblock reviewed PTPRZ1
Undiagnosed metabolic disorders PRODH Olivia Niblock reviewed PRODH
Undiagnosed metabolic disorders PREPL Olivia Niblock reviewed PREPL
Undiagnosed metabolic disorders PPOX Olivia Niblock reviewed PPOX
Undiagnosed metabolic disorders PPM1K Sarah Leigh commented on PPM1K
Undiagnosed metabolic disorders PPM1B Olivia Niblock reviewed PPM1B
Undiagnosed metabolic disorders PNLIP Olivia Niblock reviewed PNLIP
Undiagnosed metabolic disorders PIGM Olivia Niblock reviewed PIGM
Undiagnosed metabolic disorders PHYKPL Olivia Niblock reviewed PHYKPL
Undiagnosed metabolic disorders PHKG1 Sarah Leigh commented on PHKG1
Undiagnosed metabolic disorders PDXK Olivia Niblock reviewed PDXK
Undiagnosed metabolic disorders PDPR Olivia Niblock reviewed PDPR
Undiagnosed metabolic disorders PDP2 Olivia Niblock reviewed PDP2
Undiagnosed metabolic disorders PDK4 Olivia Niblock reviewed PDK4
Undiagnosed metabolic disorders PDK3 Olivia Niblock reviewed PDK3
Undiagnosed metabolic disorders PDK2 Olivia Niblock reviewed PDK2
Undiagnosed metabolic disorders PDK1 Louise Daugherty reviewed PDK1
Undiagnosed metabolic disorders PCK1 Louise Daugherty reviewed PCK1
Undiagnosed metabolic disorders OPLAH Louise Daugherty reviewed OPLAH
Undiagnosed metabolic disorders OGDH Louise Daugherty reviewed OGDH
Undiagnosed metabolic disorders NUP62 Louise Daugherty reviewed NUP62
Undiagnosed metabolic disorders NT5C3A Louise Daugherty reviewed NT5C3A
Undiagnosed metabolic disorders NT5C Louise Daugherty reviewed NT5C
Undiagnosed metabolic disorders NDUFB9 Louise Daugherty reviewed NDUFB9
Undiagnosed metabolic disorders NDUFAF6 Louise Daugherty reviewed NDUFAF6
Undiagnosed metabolic disorders NDUFA9 Louise Daugherty reviewed NDUFA9
Undiagnosed metabolic disorders NDUFA12 Louise Daugherty reviewed NDUFA12
Undiagnosed metabolic disorders MTTP Louise Daugherty reviewed MTTP
Undiagnosed metabolic disorders MTPAP Louise Daugherty reviewed MTPAP
Undiagnosed metabolic disorders MSMO1 Louise Daugherty reviewed MSMO1
Undiagnosed metabolic disorders MRPS16 Louise Daugherty reviewed MRPS16
Undiagnosed metabolic disorders MRPL3 Louise Daugherty reviewed MRPL3
Undiagnosed metabolic disorders MOGS Louise Daugherty reviewed MOGS
Undiagnosed metabolic disorders MFF Rebecca Foulger reviewed MFF
Undiagnosed metabolic disorders LPL Rebecca Foulger reviewed LPL
Undiagnosed metabolic disorders LIPI Rebecca Foulger reviewed LIPI
Undiagnosed metabolic disorders LIPC Rebecca Foulger reviewed LIPC
Undiagnosed metabolic disorders LFNG Rebecca Foulger reviewed LFNG
Undiagnosed metabolic disorders LCT Rebecca Foulger reviewed LCT
Undiagnosed metabolic disorders LCAT Rebecca Foulger reviewed LCAT
Undiagnosed metabolic disorders KYNU Rebecca Foulger reviewed KYNU
Undiagnosed metabolic disorders KHK Sarah Leigh reviewed KHK
Undiagnosed metabolic disorders ITPA Rebecca Foulger reviewed ITPA
Undiagnosed metabolic disorders IDH2 Rebecca Foulger reviewed IDH2
Undiagnosed metabolic disorders IARS2 Sarah Leigh reviewed IARS2
Undiagnosed metabolic disorders HYKK Rebecca Foulger reviewed HYKK
Undiagnosed metabolic disorders HYAL1 Rebecca Foulger reviewed HYAL1
Undiagnosed metabolic disorders HSD3B7 Rebecca Foulger reviewed HSD3B7
Undiagnosed metabolic disorders HMBS Rebecca Foulger reviewed HMBS
Undiagnosed metabolic disorders HFE2 Rebecca Foulger reviewed HFE2
Undiagnosed metabolic disorders HFE Rebecca Foulger reviewed HFE
Undiagnosed metabolic disorders HARS2 Rebecca Foulger reviewed HARS2
Undiagnosed metabolic disorders HAMP Ellen McDonagh reviewed HAMP
Undiagnosed metabolic disorders HAL Sarah Leigh reviewed HAL
Undiagnosed metabolic disorders GSS Ellen McDonagh reviewed GSS
Undiagnosed metabolic disorders GPHN Ellen McDonagh reviewed GPHN
Undiagnosed metabolic disorders GLYCTK Ellen McDonagh reviewed GLYCTK
Undiagnosed metabolic disorders GLS Ellen McDonagh reviewed GLS
Undiagnosed metabolic disorders GGT1 Ellen McDonagh reviewed GGT1
Undiagnosed metabolic disorders GCSH Ellen McDonagh reviewed GCSH
Undiagnosed metabolic disorders GCLC Ellen McDonagh reviewed GCLC
Undiagnosed metabolic disorders GALNT12 Sarah Leigh reviewed GALNT12
Undiagnosed metabolic disorders FXYD2 Ellen McDonagh reviewed FXYD2
Undiagnosed metabolic disorders FMO3 Sarah Leigh reviewed FMO3
Undiagnosed metabolic disorders EGF Sarah Leigh reviewed EGF
Undiagnosed metabolic disorders DPYD Ellen McDonagh reviewed DPYD
Undiagnosed metabolic disorders DPM3 Ellen McDonagh reviewed DPM3
Undiagnosed metabolic disorders DPEP1 Ellen McDonagh reviewed DPEP1
Undiagnosed metabolic disorders DMGDH Ellen McDonagh reviewed DMGDH
Undiagnosed metabolic disorders DLST Ellen McDonagh reviewed DLST
Undiagnosed metabolic disorders DCXR Ellen McDonagh reviewed DCXR
Undiagnosed metabolic disorders DBH Sarah Leigh reviewed DBH
Undiagnosed metabolic disorders CYP7A1 Ellen McDonagh reviewed CYP7A1
Undiagnosed metabolic disorders CPOX Ellen McDonagh reviewed CPOX
Undiagnosed metabolic disorders COX4I2 Sarah Leigh reviewed COX4I2
Undiagnosed metabolic disorders COA5 Sarah Leigh reviewed COA5
Undiagnosed metabolic disorders CNNM2 Sarah Leigh reviewed CNNM2
Undiagnosed metabolic disorders CNDP1 Sarah Leigh reviewed CNDP1
Undiagnosed metabolic disorders CLPS Sarah Leigh reviewed CLPS
Undiagnosed metabolic disorders CETP Sarah Leigh reviewed CETP
Undiagnosed metabolic disorders CD320 Sarah Leigh edited their review of CD320
Undiagnosed metabolic disorders BCAT2 Sarah Leigh reviewed BCAT2
Undiagnosed metabolic disorders BCAT1 Sarah Leigh reviewed BCAT1
Undiagnosed metabolic disorders BAAT Sarah Leigh reviewed BAAT
Undiagnosed metabolic disorders ATXN7 Sarah Leigh reviewed ATXN7
Undiagnosed metabolic disorders ATP8B1 Sarah Leigh reviewed ATP8B1
Undiagnosed metabolic disorders ATP5E Sarah Leigh reviewed ATP5E
Undiagnosed metabolic disorders ATP5A1 Sarah Leigh reviewed ATP5A1
Undiagnosed metabolic disorders APRT Sarah Leigh reviewed APRT
Undiagnosed metabolic disorders APOE Sarah Leigh reviewed APOE
Undiagnosed metabolic disorders APOC2 Sarah Leigh reviewed APOC2
Undiagnosed metabolic disorders APOA5 Sarah Leigh reviewed APOA5
Undiagnosed metabolic disorders APOA1 Sarah Leigh reviewed APOA1
Undiagnosed metabolic disorders AOX1 Sarah Leigh reviewed AOX1
Undiagnosed metabolic disorders AMPD1 Sarah Leigh reviewed AMPD1
Undiagnosed metabolic disorders ALG2 Sarah Leigh reviewed ALG2
Undiagnosed metabolic disorders ALG14 Sarah Leigh reviewed ALG14
Undiagnosed metabolic disorders ALDH6A1 Sarah Leigh reviewed ALDH6A1
Undiagnosed metabolic disorders ALAD Sarah Leigh reviewed ALAD
Undiagnosed metabolic disorders AKR1D1 Sarah Leigh reviewed AKR1D1
Undiagnosed metabolic disorders AHCY Sarah Leigh reviewed AHCY
Undiagnosed metabolic disorders ACADSB Sarah Leigh reviewed ACADSB
Undiagnosed metabolic disorders ACAD8 Sarah Leigh reviewed ACAD8
Undiagnosed metabolic disorders ABHD5 Sarah Leigh reviewed ABHD5
Undiagnosed metabolic disorders ABCG2 Sarah Leigh reviewed ABCG2
Undiagnosed metabolic disorders ABCB4 Sarah Leigh reviewed ABCB4
Undiagnosed metabolic disorders ABCB11 Sarah Leigh reviewed ABCB11
Undiagnosed metabolic disorders ABCA1 Sarah Leigh reviewed ABCA1
Undiagnosed metabolic disorders TALDO1 Sarah Leigh marked TALDO1 as ready
Undiagnosed metabolic disorders TALDO1 Sarah Leigh classified TALDO1 as green
Undiagnosed metabolic disorders TALDO1 Sarah Leigh commented on TALDO1
Undiagnosed metabolic disorders PDK3 Sarah Leigh reviewed PDK3
Undiagnosed metabolic disorders MTPAP Louise Daugherty commented on MTPAP
Undiagnosed metabolic disorders DPM2 Ellen McDonagh classified DPM2 as green
Undiagnosed metabolic disorders DPM2 Ellen McDonagh added DPM2 to panel
Undiagnosed metabolic disorders DPM2 Ellen McDonagh reviewed DPM2
Undiagnosed metabolic disorders CD320 Sarah Leigh edited their review of CD320
Undiagnosed metabolic disorders FTCD Ellen McDonagh commented on FTCD
Undiagnosed metabolic disorders ATIC Richard Scott classified ATIC as green
Undiagnosed metabolic disorders ATIC Richard Scott marked ATIC as ready
Undiagnosed metabolic disorders ATIC Richard Scott reviewed ATIC
Undiagnosed metabolic disorders SI Sarah Leigh commented on SI
Undiagnosed metabolic disorders SAR1B Sarah Leigh commented on SAR1B
Undiagnosed metabolic disorders UROS Sarah Leigh commented on UROS
Undiagnosed metabolic disorders UGT1A1 Sarah Leigh commented on UGT1A1
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh marked C1GALT1C1 as ready
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh commented on C1GALT1C1
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh marked SLC52A1 as ready
Undiagnosed metabolic disorders RBCK1 Sarah Leigh marked RBCK1 as ready
Undiagnosed metabolic disorders RBCK1 Sarah Leigh commented on RBCK1
Undiagnosed metabolic disorders RBCK1 Sarah Leigh classified RBCK1 as green
Undiagnosed metabolic disorders NAT8L Sarah Leigh marked NAT8L as ready
Undiagnosed metabolic disorders MTHFD1 Sarah Leigh marked MTHFD1 as ready
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh commented on DHFRL1
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh marked SLC52A3 as ready
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh classified SLC52A3 as green
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh marked SLC52A2 as ready
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh classified SLC52A2 as green
Undiagnosed metabolic disorders HCFC1 Sarah Leigh marked HCFC1 as ready
Undiagnosed metabolic disorders HCFC1 Sarah Leigh classified HCFC1 as green
Undiagnosed metabolic disorders GLRA1 Sarah Leigh marked GLRA1 as ready
Undiagnosed metabolic disorders GLRA1 Sarah Leigh classified GLRA1 as green
Undiagnosed metabolic disorders GABRG2 Sarah Leigh marked GABRG2 as ready
Undiagnosed metabolic disorders GABRG2 Sarah Leigh classified GABRG2 as green
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh added DHFRL1 to panel
Undiagnosed metabolic disorders DHFRL1 Sarah Leigh reviewed DHFRL1
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh edited their review of SLC52A3
Undiagnosed metabolic disorders SLC52A3 Sarah Leigh reviewed SLC52A3
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh edited their review of SLC52A2
Undiagnosed metabolic disorders SLC52A2 Sarah Leigh reviewed SLC52A2
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh edited their review of SLC52A1
Undiagnosed metabolic disorders SLC52A1 Sarah Leigh reviewed SLC52A1
Undiagnosed metabolic disorders PPM1K Sarah Leigh reviewed PPM1K
Undiagnosed metabolic disorders PHKG1 Sarah Leigh reviewed PHKG1
Undiagnosed metabolic disorders NAT8L Sarah Leigh reviewed NAT8L
Undiagnosed metabolic disorders MTHFD1 Sarah Leigh reviewed MTHFD1
Undiagnosed metabolic disorders HCFC1 Sarah Leigh edited their review of HCFC1
Undiagnosed metabolic disorders HCFC1 Sarah Leigh reviewed HCFC1
Undiagnosed metabolic disorders GLRA1 Sarah Leigh edited their review of GLRA1
Undiagnosed metabolic disorders GLRA1 Sarah Leigh reviewed GLRA1
Undiagnosed metabolic disorders GABRG2 Sarah Leigh edited their review of GABRG2
Undiagnosed metabolic disorders GABRG2 Sarah Leigh reviewed GABRG2
Undiagnosed metabolic disorders FOLR2 Sarah Leigh reviewed FOLR2
Undiagnosed metabolic disorders FOLR3 Sarah Leigh reviewed FOLR3
Undiagnosed metabolic disorders DHFR2 Sarah Leigh reviewed DHFR2*
Undiagnosed metabolic disorders ARSG Sarah Leigh reviewed ARSG
Undiagnosed metabolic disorders CTH Sarah Leigh marked CTH as ready
Undiagnosed metabolic disorders CTH Sarah Leigh commented on CTH
Undiagnosed metabolic disorders CTNS Sarah Leigh marked CTNS as ready
Undiagnosed metabolic disorders CTNS Sarah Leigh commented on CTNS
Undiagnosed metabolic disorders DBH Sarah Leigh classified DBH as red
Undiagnosed metabolic disorders DNAJC19 Sarah Leigh marked DNAJC19 as ready
Undiagnosed metabolic disorders DNAJC19 Sarah Leigh commented on DNAJC19
Undiagnosed metabolic disorders DNAJC5 Sarah Leigh marked DNAJC5 as ready
Undiagnosed metabolic disorders DNAJC5 Sarah Leigh commented on DNAJC5
Undiagnosed metabolic disorders EPM2A Sarah Leigh marked EPM2A as ready
Undiagnosed metabolic disorders EPM2A Sarah Leigh commented on EPM2A
Undiagnosed metabolic disorders FAH Sarah Leigh marked FAH as ready
Undiagnosed metabolic disorders FAH Sarah Leigh commented on FAH
Undiagnosed metabolic disorders GCSH Sarah Leigh marked GCSH as ready
Undiagnosed metabolic disorders GCSH Sarah Leigh commented on GCSH
Undiagnosed metabolic disorders GCSH Sarah Leigh classified GCSH as red
Undiagnosed metabolic disorders GIF Sarah Leigh marked GIF as ready
Undiagnosed metabolic disorders GIF Sarah Leigh commented on GIF
Undiagnosed metabolic disorders GNMT Sarah Leigh marked GNMT as ready
Undiagnosed metabolic disorders GNMT Sarah Leigh commented on GNMT
Undiagnosed metabolic disorders HGD Sarah Leigh marked HGD as ready
Undiagnosed metabolic disorders HGD Sarah Leigh commented on HGD
Undiagnosed metabolic disorders NHLRC1 Sarah Leigh marked NHLRC1 as ready
Undiagnosed metabolic disorders NHLRC1 Sarah Leigh commented on NHLRC1
Undiagnosed metabolic disorders PCBD1 Sarah Leigh marked PCBD1 as ready
Undiagnosed metabolic disorders PCBD1 Sarah Leigh commented on PCBD1
Undiagnosed metabolic disorders SLC36A2 Sarah Leigh classified SLC36A2 as red
Undiagnosed metabolic disorders SLC36A2 Sarah Leigh reviewed SLC36A2
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh marked SLC6A19 as ready
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh commented on SLC6A19
Undiagnosed metabolic disorders SLC6A19 Sarah Leigh classified SLC6A19 as green
Undiagnosed metabolic disorders SUOX Sarah Leigh marked SUOX as ready
Undiagnosed metabolic disorders SUOX Sarah Leigh marked SUOX as ready
Undiagnosed metabolic disorders SUOX Sarah Leigh commented on SUOX
Undiagnosed metabolic disorders TCN1 Sarah Leigh marked TCN1 as ready
Undiagnosed metabolic disorders TCN1 Sarah Leigh commented on TCN1
Undiagnosed metabolic disorders QDPR Sarah Leigh marked QDPR as ready
Undiagnosed metabolic disorders QDPR Sarah Leigh classified QDPR as green
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh marked PRKAG2 as ready
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh classified PRKAG2 as green
Undiagnosed metabolic disorders PHKA1 Sarah Leigh marked PHKA1 as ready
Undiagnosed metabolic disorders PHKA1 Sarah Leigh classified PHKA1 as green
Undiagnosed metabolic disorders PGK1 Sarah Leigh marked PGK1 as ready
Undiagnosed metabolic disorders PGK1 Sarah Leigh classified PGK1 as green
Undiagnosed metabolic disorders PAH Sarah Leigh marked PAH as ready
Undiagnosed metabolic disorders PAH Sarah Leigh classified PAH as green
Undiagnosed metabolic disorders MAT1A Sarah Leigh marked MAT1A as ready
Undiagnosed metabolic disorders MAT1A Sarah Leigh classified MAT1A as green
Undiagnosed metabolic disorders MAOA Sarah Leigh marked MAOA as ready
Undiagnosed metabolic disorders LAMP2 Sarah Leigh marked LAMP2 as ready
Undiagnosed metabolic disorders LAMP2 Sarah Leigh classified LAMP2 as green
Undiagnosed metabolic disorders L2HGDH Sarah Leigh marked L2HGDH as ready
Undiagnosed metabolic disorders L2HGDH Sarah Leigh classified L2HGDH as green
Undiagnosed metabolic disorders HEXB Sarah Leigh marked HEXB as ready
Undiagnosed metabolic disorders HEXB Sarah Leigh classified HEXB as green
Undiagnosed metabolic disorders HEXA Sarah Leigh marked HEXA as ready
Undiagnosed metabolic disorders HEXA Sarah Leigh classified HEXA as green
Undiagnosed metabolic disorders GYG1 Sarah Leigh marked GYG1 as ready
Undiagnosed metabolic disorders GYG1 Sarah Leigh classified GYG1 as green
Undiagnosed metabolic disorders GLDC Sarah Leigh marked GLDC as ready
Undiagnosed metabolic disorders GLDC Sarah Leigh classified GLDC as green
Undiagnosed metabolic disorders GCH1 Sarah Leigh marked GCH1 as ready
Undiagnosed metabolic disorders GCH1 Sarah Leigh classified GCH1 as green
Undiagnosed metabolic disorders GCDH Sarah Leigh marked GCDH as ready
Undiagnosed metabolic disorders GCDH Sarah Leigh classified GCDH as green
Undiagnosed metabolic disorders GALK1 Sarah Leigh marked GALK1 as ready
Undiagnosed metabolic disorders GALK1 Sarah Leigh classified GALK1 as green
Undiagnosed metabolic disorders G6PC3 Sarah Leigh marked G6PC3 as ready
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders FUCA1 Sarah Leigh marked FUCA1 as ready
Undiagnosed metabolic disorders FUCA1 Sarah Leigh classified FUCA1 as green
Undiagnosed metabolic disorders FTCD Sarah Leigh marked FTCD as ready
Undiagnosed metabolic disorders DDC Sarah Leigh marked DDC as ready
Undiagnosed metabolic disorders DDC Sarah Leigh classified DDC as green
Undiagnosed metabolic disorders D2HGDH Sarah Leigh marked D2HGDH as ready
Undiagnosed metabolic disorders D2HGDH Sarah Leigh classified D2HGDH as green
Undiagnosed metabolic disorders CTSK Sarah Leigh marked CTSK as ready
Undiagnosed metabolic disorders CTSK Sarah Leigh classified CTSK as green
Undiagnosed metabolic disorders CTSD Sarah Leigh marked CTSD as ready
Undiagnosed metabolic disorders CTSD Sarah Leigh classified CTSD as green
Undiagnosed metabolic disorders CTSA Sarah Leigh marked CTSA as ready
Undiagnosed metabolic disorders CTSA Sarah Leigh classified CTSA as green
Undiagnosed metabolic disorders CBS Sarah Leigh marked CBS as ready
Undiagnosed metabolic disorders CBS Sarah Leigh classified CBS as green
Undiagnosed metabolic disorders ASPA Sarah Leigh marked ASPA as ready
Undiagnosed metabolic disorders ASPA Sarah Leigh classified ASPA as green
Undiagnosed metabolic disorders AMT Sarah Leigh marked AMT as ready
Undiagnosed metabolic disorders AMT Sarah Leigh classified AMT as green
Undiagnosed metabolic disorders AMN Sarah Leigh marked AMN as ready
Undiagnosed metabolic disorders AMN Sarah Leigh classified AMN as green
Undiagnosed metabolic disorders ABCD4 Sarah Leigh marked ABCD4 as ready
Undiagnosed metabolic disorders ABCD4 Sarah Leigh classified ABCD4 as green
Undiagnosed metabolic disorders SUMF1 Sarah Leigh marked SUMF1 as ready
Undiagnosed metabolic disorders SUMF1 Sarah Leigh classified SUMF1 as green
Undiagnosed metabolic disorders SMPD1 Sarah Leigh marked SMPD1 as ready
Undiagnosed metabolic disorders SMPD1 Sarah Leigh classified SMPD1 as green
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh marked SLC17A5 as ready
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh classified SLC17A5 as green
Undiagnosed metabolic disorders PPT1 Sarah Leigh marked PPT1 as ready
Undiagnosed metabolic disorders PPT1 Sarah Leigh classified PPT1 as green
Undiagnosed metabolic disorders PFKM Sarah Leigh marked PFKM as ready
Undiagnosed metabolic disorders PFKM Sarah Leigh classified PFKM as green
Undiagnosed metabolic disorders NPC2 Sarah Leigh marked NPC2 as ready
Undiagnosed metabolic disorders NPC2 Sarah Leigh classified NPC2 as green
Undiagnosed metabolic disorders NPC1 Sarah Leigh marked NPC1 as ready
Undiagnosed metabolic disorders NPC1 Sarah Leigh classified NPC1 as green
Undiagnosed metabolic disorders NAGA Sarah Leigh marked NAGA as ready
Undiagnosed metabolic disorders NAGA Sarah Leigh classified NAGA as green
Undiagnosed metabolic disorders MTRR Sarah Leigh marked MTRR as ready
Undiagnosed metabolic disorders MTRR Sarah Leigh classified MTRR as green
Undiagnosed metabolic disorders MTR Sarah Leigh marked MTR as ready
Undiagnosed metabolic disorders MTR Sarah Leigh classified MTR as green
Undiagnosed metabolic disorders MMADHC Sarah Leigh marked MMADHC as ready
Undiagnosed metabolic disorders MMADHC Sarah Leigh classified MMADHC as green
Undiagnosed metabolic disorders MMACHC Sarah Leigh marked MMACHC as ready
Undiagnosed metabolic disorders MMACHC Sarah Leigh classified MMACHC as green
Undiagnosed metabolic disorders MFSD8 Sarah Leigh marked MFSD8 as ready
Undiagnosed metabolic disorders MFSD8 Sarah Leigh classified MFSD8 as green
Undiagnosed metabolic disorders MCCC2 Sarah Leigh marked MCCC2 as ready
Undiagnosed metabolic disorders MCCC2 Sarah Leigh classified MCCC2 as green
Undiagnosed metabolic disorders MCCC1 Sarah Leigh marked MCCC1 as ready
Undiagnosed metabolic disorders MCCC1 Sarah Leigh classified MCCC1 as green
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh marked MAN2B1 as ready
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh classified MAN2B1 as green
Undiagnosed metabolic disorders LPIN1 Sarah Leigh marked LPIN1 as ready
Undiagnosed metabolic disorders LPIN1 Sarah Leigh classified LPIN1 as green
Undiagnosed metabolic disorders LMBRD1 Sarah Leigh marked LMBRD1 as ready
Undiagnosed metabolic disorders LMBRD1 Sarah Leigh commented on LMBRD1
Undiagnosed metabolic disorders LIPA Sarah Leigh marked LIPA as ready
Undiagnosed metabolic disorders LIPA Sarah Leigh classified LIPA as green
Undiagnosed metabolic disorders HYAL1 Sarah Leigh commented on HYAL1
Undiagnosed metabolic disorders HYAL1 Sarah Leigh marked HYAL1 as ready
Undiagnosed metabolic disorders HYAL1 Sarah Leigh classified HYAL1 as red
Undiagnosed metabolic disorders HMGCS2 Sarah Leigh marked HMGCS2 as ready
Undiagnosed metabolic disorders HMGCS2 Sarah Leigh commented on HMGCS2
Undiagnosed metabolic disorders GYS1 Sarah Leigh marked GYS1 as ready
Undiagnosed metabolic disorders GYS1 Sarah Leigh classified GYS1 as green
Undiagnosed metabolic disorders GM2A Sarah Leigh marked GM2A as ready
Undiagnosed metabolic disorders GM2A Sarah Leigh classified GM2A as green
Undiagnosed metabolic disorders GM2A Sarah Leigh classified GM2A as green
Undiagnosed metabolic disorders GALC Sarah Leigh marked GALC as ready
Undiagnosed metabolic disorders GALC Sarah Leigh classified GALC as green
Undiagnosed metabolic disorders GAA Sarah Leigh marked GAA as ready
Undiagnosed metabolic disorders GAA Sarah Leigh classified GAA as green
Undiagnosed metabolic disorders ENO3 Sarah Leigh marked ENO3 as ready
Undiagnosed metabolic disorders ENO3 Sarah Leigh classified ENO3 as green
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh marked CYP27A1 as ready
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh classified CYP27A1 as green
Undiagnosed metabolic disorders CLN8 Sarah Leigh marked CLN8 as ready
Undiagnosed metabolic disorders CLN8 Sarah Leigh classified CLN8 as green
Undiagnosed metabolic disorders CLN6 Sarah Leigh marked CLN6 as ready
Undiagnosed metabolic disorders CLN6 Sarah Leigh classified CLN6 as green
Undiagnosed metabolic disorders CLN5 Sarah Leigh marked CLN5 as ready
Undiagnosed metabolic disorders CLN5 Sarah Leigh classified CLN5 as green
Undiagnosed metabolic disorders CLN3 Sarah Leigh marked CLN3 as ready
Undiagnosed metabolic disorders CLN3 Sarah Leigh classified CLN3 as green
Undiagnosed metabolic disorders CD320 Sarah Leigh marked CD320 as ready
Undiagnosed metabolic disorders CD320 Sarah Leigh commented on CD320
Undiagnosed metabolic disorders CD320 Sarah Leigh classified CD320 as red
Undiagnosed metabolic disorders ARSA Sarah Leigh marked ARSA as ready
Undiagnosed metabolic disorders ARSA Sarah Leigh classified ARSA as green
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh marked ALDH5A1 as ready
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh classified ALDH5A1 as green
Undiagnosed metabolic disorders AGA Sarah Leigh marked AGA as ready
Undiagnosed metabolic disorders AGA Sarah Leigh classified AGA as green
Undiagnosed metabolic disorders ACADS Sarah Leigh marked ACADS as ready
Undiagnosed metabolic disorders ACADS Sarah Leigh commented on ACADS
Undiagnosed metabolic disorders RYR1 Ellen McDonagh classified RYR1 as amber
Undiagnosed metabolic disorders RYR1 Arianna Tucci reviewed RYR1
Undiagnosed metabolic disorders AMPD1 Arianna Tucci reviewed AMPD1
Undiagnosed metabolic disorders TYMP Arianna Tucci reviewed TYMP
Undiagnosed metabolic disorders TK2 Arianna Tucci reviewed TK2
Undiagnosed metabolic disorders SUCLA2 Arianna Tucci reviewed SUCLA2
Undiagnosed metabolic disorders SLC22A5 Arianna Tucci reviewed SLC22A5
Undiagnosed metabolic disorders RRM2B Arianna Tucci reviewed RRM2B
Undiagnosed metabolic disorders RBCK1 Arianna Tucci reviewed RBCK1
Undiagnosed metabolic disorders PYGM Arianna Tucci reviewed PYGM
Undiagnosed metabolic disorders PRKAG2 Arianna Tucci reviewed PRKAG2
Undiagnosed metabolic disorders POLG2 Arianna Tucci reviewed POLG2
Undiagnosed metabolic disorders POLG Arianna Tucci reviewed POLG
Undiagnosed metabolic disorders PHKB Arianna Tucci reviewed PHKB
Undiagnosed metabolic disorders PHKA1 Arianna Tucci reviewed PHKA1
Undiagnosed metabolic disorders PGM1 Arianna Tucci reviewed PGM1
Undiagnosed metabolic disorders PGK1 Arianna Tucci reviewed PGK1
Undiagnosed metabolic disorders PGAM2 Arianna Tucci reviewed PGAM2
Undiagnosed metabolic disorders PFKM Arianna Tucci reviewed PFKM
Undiagnosed metabolic disorders LPIN1 Arianna Tucci reviewed LPIN1
Undiagnosed metabolic disorders LDHA Arianna Tucci reviewed LDHA
Undiagnosed metabolic disorders LAMP2 Arianna Tucci reviewed LAMP2
Undiagnosed metabolic disorders ISCU Arianna Tucci reviewed ISCU
Undiagnosed metabolic disorders HADHB Arianna Tucci reviewed HADHB
Undiagnosed metabolic disorders HADHA Arianna Tucci reviewed HADHA
Undiagnosed metabolic disorders GYS1 Arianna Tucci reviewed GYS1
Undiagnosed metabolic disorders GYG1 Arianna Tucci reviewed GYG1
Undiagnosed metabolic disorders GBE1 Arianna Tucci reviewed GBE1
Undiagnosed metabolic disorders GAA Arianna Tucci reviewed GAA
Undiagnosed metabolic disorders ETFDH Arianna Tucci reviewed ETFDH
Undiagnosed metabolic disorders ETFB Arianna Tucci reviewed ETFB
Undiagnosed metabolic disorders ETFA Arianna Tucci reviewed ETFA
Undiagnosed metabolic disorders ENO3 Arianna Tucci reviewed ENO3
Undiagnosed metabolic disorders CPT2 Arianna Tucci reviewed CPT2
Undiagnosed metabolic disorders ALDOA Arianna Tucci reviewed ALDOA
Undiagnosed metabolic disorders AGL Arianna Tucci reviewed AGL
Undiagnosed metabolic disorders ACADVL Arianna Tucci reviewed ACADVL
Undiagnosed metabolic disorders ACADM Arianna Tucci reviewed ACADM
Undiagnosed metabolic disorders ACAD9 Arianna Tucci reviewed ACAD9
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh classified BCKDK as green
Undiagnosed metabolic disorders BCKDK Sarah Leigh marked BCKDK as ready
Undiagnosed metabolic disorders BCKDK Sarah Leigh added BCKDK to panel
Undiagnosed metabolic disorders BCKDK Sarah Leigh reviewed BCKDK
Undiagnosed metabolic disorders CUBN Sarah Leigh marked CUBN as ready
Undiagnosed metabolic disorders CUBN Sarah Leigh classified CUBN as green
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh classified ALDH4A1 as green
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh marked ALDH4A1 as ready
Undiagnosed metabolic disorders GALE Sarah Leigh marked GALE as ready
Undiagnosed metabolic disorders GALE Sarah Leigh classified GALE as green
Undiagnosed metabolic disorders TPP1 Sarah Leigh marked TPP1 as ready
Undiagnosed metabolic disorders TPP1 Sarah Leigh classified TPP1 as green
Undiagnosed metabolic disorders ACSF3 Sarah Leigh marked ACSF3 as ready
Undiagnosed metabolic disorders ACSF3 Sarah Leigh commented on ACSF3
Undiagnosed metabolic disorders DPYS Sarah Leigh marked DPYS as ready
Undiagnosed metabolic disorders DPYS Sarah Leigh commented on DPYS
Undiagnosed metabolic disorders DPYS Sarah Leigh classified DPYS as green
Undiagnosed metabolic disorders AASS Sarah Leigh marked AASS as ready
Undiagnosed metabolic disorders AASS Sarah Leigh classified AASS as green
Undiagnosed metabolic disorders GALT Sarah Leigh marked GALT as ready
Undiagnosed metabolic disorders GALT Sarah Leigh classified GALT as green
Undiagnosed metabolic disorders UMPS Sarah Leigh marked UMPS as ready
Undiagnosed metabolic disorders UMPS Sarah Leigh classified UMPS as green
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh classified SLC30A10 as green
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh marked SLC30A10 as ready
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh marked CYP7B1 as ready
Undiagnosed metabolic disorders PNPO Sarah Leigh marked PNPO as ready
Undiagnosed metabolic disorders PNPO Sarah Leigh commented on PNPO
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh classified ALDH7A1 as green
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh classified ALDH7A1 as green
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh marked ALDH7A1 as ready
Undiagnosed metabolic disorders ADCK4 Sarah Leigh commented on ADCK4
Undiagnosed metabolic disorders MT-TA Ellen McDonagh commented on MT-TA
Undiagnosed metabolic disorders MT-RNR1 Ellen McDonagh commented on MT-RNR1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders VKORC1 Sarah Leigh commented on VKORC1
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders UROC1 Sarah Leigh commented on UROC1
Undiagnosed metabolic disorders UMPS Sarah Leigh commented on UMPS
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders TTPA Sarah Leigh commented on TTPA
Undiagnosed metabolic disorders TTC37 Sarah Leigh commented on TTC37
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders TAT Sarah Leigh commented on TAT
Undiagnosed metabolic disorders TALDO1 Sarah Leigh commented on TALDO1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders STS Sarah Leigh commented on STS
Undiagnosed metabolic disorders ST3GAL3 Sarah Leigh commented on ST3GAL3
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders WFS1 Sarah Leigh edited their review of WFS1
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders WFS1 Sarah Leigh reviewed WFS1
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC7A9 Sarah Leigh commented on SLC7A9
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh commented on SLC6A8
Undiagnosed metabolic disorders WDR45 Sarah Leigh edited their review of WDR45
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders WDR45 Sarah Leigh reviewed WDR45
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC3A1 Sarah Leigh commented on SLC3A1
Undiagnosed metabolic disorders VPS33B Sarah Leigh edited their review of VPS33B
Undiagnosed metabolic disorders SLC35A2 Sarah Leigh commented on SLC35A2
Undiagnosed metabolic disorders VPS33B Sarah Leigh reviewed VPS33B
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders VKORC1 Sarah Leigh reviewed VKORC1
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh edited their review of VIPAS39
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders VIPAS39 Sarah Leigh reviewed VIPAS39
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UROC1 Sarah Leigh reviewed UROC1
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMPS Sarah Leigh reviewed UMPS
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMOD Sarah Leigh edited their review of UMOD
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders UMOD Sarah Leigh reviewed UMOD
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders TTPA Sarah Leigh reviewed TTPA
Undiagnosed metabolic disorders SLC25A12 Sarah Leigh commented on SLC25A12
Undiagnosed metabolic disorders TTC37 Sarah Leigh reviewed TTC37
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh edited their review of TREX1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders TREX1 Sarah Leigh reviewed TREX1
Undiagnosed metabolic disorders SLC12A3 Sarah Leigh commented on SLC12A3
Undiagnosed metabolic disorders TPP1 Sarah Leigh edited their review of TPP1
Undiagnosed metabolic disorders SKIV2L Sarah Leigh commented on SKIV2L
Undiagnosed metabolic disorders TPP1 Sarah Leigh reviewed TPP1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh edited their review of TH
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders TH Sarah Leigh reviewed TH
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh edited their review of TCN2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders TCN2 Sarah Leigh reviewed TCN2
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders TAT Sarah Leigh reviewed TAT
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders TALDO1 Sarah Leigh reviewed TALDO1
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders SUMF1 Sarah Leigh edited their review of SUMF1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders SUMF1 Sarah Leigh reviewed SUMF1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders STS Sarah Leigh reviewed STS
Undiagnosed metabolic disorders ST3GAL3 Sarah Leigh reviewed ST3GAL3
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh edited their review of SPTLC2
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC2 Sarah Leigh reviewed SPTLC2
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh edited their review of SPTLC1
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders SPTLC1 Sarah Leigh reviewed SPTLC1
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh edited their review of SPR
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders SPR Sarah Leigh reviewed SPR
Undiagnosed metabolic disorders RBP4 Sarah Leigh commented on RBP4
Undiagnosed metabolic disorders SMPD1 Sarah Leigh edited their review of SMPD1
Undiagnosed metabolic disorders QDPR Sarah Leigh commented on QDPR
Undiagnosed metabolic disorders SMPD1 Sarah Leigh reviewed SMPD1
Undiagnosed metabolic disorders PTS Sarah Leigh commented on PTS
Undiagnosed metabolic disorders SLC7A9 Sarah Leigh reviewed SLC7A9
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh reviewed SLC6A8
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders PSAT1 Sarah Leigh commented on PSAT1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh edited their review of SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC6A3 Sarah Leigh reviewed SLC6A3
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders SLC3A1 Sarah Leigh reviewed SLC3A1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders SLC35A2 Sarah Leigh reviewed SLC35A2
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh edited their review of SLC30A10
Undiagnosed metabolic disorders SLC30A10 Sarah Leigh reviewed SLC30A10
Undiagnosed metabolic disorders PPT1 Sarah Leigh commented on PPT1
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders PNP Sarah Leigh commented on PNP
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh edited their review of SLC2A1
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders SLC2A1 Sarah Leigh reviewed SLC2A1
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders SLC25A12 Sarah Leigh reviewed SLC25A12
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PHKA1 Sarah Leigh commented on PHKA1
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh edited their review of SLC17A5
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders SLC17A5 Sarah Leigh reviewed SLC17A5
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders SLC12A3 Sarah Leigh reviewed SLC12A3
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders SKIV2L Sarah Leigh reviewed SKIV2L
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders PGAM2 Sarah Leigh commented on PGAM2
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders SETX Sarah Leigh reviewed SETX
Undiagnosed metabolic disorders PEPD Sarah Leigh commented on PEPD
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders PCSK9 Sarah Leigh commented on PCSK9
Undiagnosed metabolic disorders SDHC Sarah Leigh edited their review of SDHC
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHC Sarah Leigh reviewed SDHC
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh edited their review of SDHAF2
Undiagnosed metabolic disorders PAH Sarah Leigh commented on PAH
Undiagnosed metabolic disorders SDHAF2 Sarah Leigh reviewed SDHAF2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders SC5D Sarah Leigh edited their review of SC5D
Undiagnosed metabolic disorders SC5D Sarah Leigh reviewed SC5D
Undiagnosed metabolic disorders RNASET2 Sarah Leigh edited their review of RNASET2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders RNASET2 Sarah Leigh reviewed RNASET2
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh edited their review of RNASEH2C
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders RNASEH2C Sarah Leigh reviewed RNASEH2C
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NAGA Sarah Leigh commented on NAGA
Undiagnosed metabolic disorders MVK Sarah Leigh commented on MVK
Undiagnosed metabolic disorders MTRR Sarah Leigh commented on MTRR
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders MTR Sarah Leigh commented on MTR
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh edited their review of RNASEH2B
Undiagnosed metabolic disorders MTFMT Sarah Leigh commented on MTFMT
Undiagnosed metabolic disorders RNASEH2B Sarah Leigh reviewed RNASEH2B
Undiagnosed metabolic disorders MOCS2 Sarah Leigh commented on MOCS2
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders MOCS1 Sarah Leigh commented on MOCS1
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh edited their review of RNASEH2A
Undiagnosed metabolic disorders MMADHC Sarah Leigh commented on MMADHC
Undiagnosed metabolic disorders RNASEH2A Sarah Leigh reviewed RNASEH2A
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders RBP4 Sarah Leigh reviewed RBP4
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders QDPR Sarah Leigh reviewed QDPR
Undiagnosed metabolic disorders MFSD8 Sarah Leigh commented on MFSD8
Undiagnosed metabolic disorders PTS Sarah Leigh reviewed PTS
Undiagnosed metabolic disorders MCCC2 Sarah Leigh commented on MCCC2
Undiagnosed metabolic disorders PSPH Sarah Leigh edited their review of PSPH
Undiagnosed metabolic disorders MCCC1 Sarah Leigh commented on MCCC1
Undiagnosed metabolic disorders PSPH Sarah Leigh reviewed PSPH
Undiagnosed metabolic disorders MAT1A Sarah Leigh commented on MAT1A
Undiagnosed metabolic disorders PSAT1 Sarah Leigh reviewed PSAT1
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MANBA Sarah Leigh commented on MANBA
Undiagnosed metabolic disorders PRPS1 Sarah Leigh edited their review of PRPS1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRPS1 Sarah Leigh reviewed PRPS1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh edited their review of PRKAG2
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders PRKAG2 Sarah Leigh reviewed PRKAG2
Undiagnosed metabolic disorders MAGT1 Sarah Leigh commented on MAGT1
Undiagnosed metabolic disorders PPT1 Sarah Leigh reviewed PPT1
Undiagnosed metabolic disorders LPIN1 Sarah Leigh commented on LPIN1
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders LIPA Sarah Leigh commented on LIPA
Undiagnosed metabolic disorders POR Sarah Leigh edited their review of POR
Undiagnosed metabolic disorders LDLRAP1 Sarah Leigh commented on LDLRAP1
Undiagnosed metabolic disorders POR Sarah Leigh reviewed POR
Undiagnosed metabolic disorders LDLR Sarah Leigh commented on LDLR
Undiagnosed metabolic disorders PNP Sarah Leigh reviewed PNP
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh edited their review of PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PLA2G6 Sarah Leigh reviewed PLA2G6
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PINK1 Sarah Leigh edited their review of PINK1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders PINK1 Sarah Leigh reviewed PINK1
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders PHKA1 Sarah Leigh reviewed PHKA1
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders PHGDH Sarah Leigh edited their review of PHGDH
Undiagnosed metabolic disorders ISCU Sarah Leigh commented on ISCU
Undiagnosed metabolic disorders PHGDH Sarah Leigh reviewed PHGDH
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders PGK1 Sarah Leigh edited their review of PGK1
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders PGK1 Sarah Leigh reviewed PGK1
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders PGAM2 Sarah Leigh reviewed PGAM2
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders PFKM Sarah Leigh edited their review of PFKM
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders PFKM Sarah Leigh reviewed PFKM
Undiagnosed metabolic disorders HPD Sarah Leigh commented on HPD
Undiagnosed metabolic disorders PEPD Sarah Leigh reviewed PEPD
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders PCSK9 Sarah Leigh reviewed PCSK9
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders PANK2 Sarah Leigh edited their review of PANK2
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders PANK2 Sarah Leigh reviewed PANK2
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders PAH Sarah Leigh reviewed PAH
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GYS1 Sarah Leigh commented on GYS1
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GYG1 Sarah Leigh commented on GYG1
Undiagnosed metabolic disorders OCRL Sarah Leigh edited their review of OCRL
Undiagnosed metabolic disorders GM2A Sarah Leigh commented on GM2A
Undiagnosed metabolic disorders OCRL Sarah Leigh reviewed OCRL
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders GLUL Sarah Leigh commented on GLUL
Undiagnosed metabolic disorders NPC2 Sarah Leigh reviewed NPC2
Undiagnosed metabolic disorders GLDC Sarah Leigh commented on GLDC
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh reviewed NPC1
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders NAGA Sarah Leigh reviewed NAGA
Undiagnosed metabolic disorders MVK Sarah Leigh reviewed MVK
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders MTRR Sarah Leigh reviewed MTRR
Undiagnosed metabolic disorders MTR Sarah Leigh reviewed MTR
Undiagnosed metabolic disorders MTFMT Sarah Leigh reviewed MTFMT
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MOCS2 Sarah Leigh reviewed MOCS2
Undiagnosed metabolic disorders MOCS1 Sarah Leigh reviewed MOCS1
Undiagnosed metabolic disorders MMADHC Sarah Leigh reviewed MMADHC
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MMACHC Sarah Leigh edited their review of MMACHC
Undiagnosed metabolic disorders MMACHC Sarah Leigh reviewed MMACHC
Undiagnosed metabolic disorders MFSD8 Sarah Leigh reviewed MFSD8
Undiagnosed metabolic disorders MCCC2 Sarah Leigh reviewed MCCC2
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders MCCC1 Sarah Leigh reviewed MCCC1
Undiagnosed metabolic disorders MAT1A Sarah Leigh reviewed MAT1A
Undiagnosed metabolic disorders GCDH Sarah Leigh commented on GCDH
Undiagnosed metabolic disorders MAOA Sarah Leigh edited their review of MAOA
Undiagnosed metabolic disorders GAMT Sarah Leigh commented on GAMT
Undiagnosed metabolic disorders MAOA Sarah Leigh reviewed MAOA
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders MANBA Sarah Leigh reviewed MANBA
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders GALK1 Sarah Leigh commented on GALK1
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh edited their review of MAN2B1
Undiagnosed metabolic disorders GALE Sarah Leigh commented on GALE
Undiagnosed metabolic disorders MAN2B1 Sarah Leigh reviewed MAN2B1
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders MAGT1 Sarah Leigh reviewed MAGT1
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders LPIN1 Sarah Leigh reviewed LPIN1
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders LIPA Sarah Leigh reviewed LIPA
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders LDLRAP1 Sarah Leigh reviewed LDLRAP1
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders LDLR Sarah Leigh reviewed LDLR
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders LBR Sarah Leigh edited their review of LBR
Undiagnosed metabolic disorders FXN Sarah Leigh commented on FXN
Undiagnosed metabolic disorders LBR Sarah Leigh reviewed LBR
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders LAMP2 Sarah Leigh edited their review of LAMP2
Undiagnosed metabolic disorders FTCD Sarah Leigh commented on FTCD
Undiagnosed metabolic disorders LAMP2 Sarah Leigh reviewed LAMP2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders L2HGDH Sarah Leigh edited their review of L2HGDH
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders L2HGDH Sarah Leigh reviewed L2HGDH
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders ISCU Sarah Leigh reviewed ISCU
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh edited their review of HSD17B10
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HSD17B10 Sarah Leigh reviewed HSD17B10
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders HPS1 Sarah Leigh edited their review of HPS1
Undiagnosed metabolic disorders FECH Sarah Leigh commented on FECH
Undiagnosed metabolic disorders HPS1 Sarah Leigh reviewed HPS1
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders HPRT1 Sarah Leigh edited their review of HPRT1
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders HPRT1 Sarah Leigh reviewed HPRT1
Undiagnosed metabolic disorders ENO3 Sarah Leigh commented on ENO3
Undiagnosed metabolic disorders HPD Sarah Leigh reviewed HPD
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXB Sarah Leigh edited their review of HEXB
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXB Sarah Leigh reviewed HEXB
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders HEXA Sarah Leigh edited their review of HEXA
Undiagnosed metabolic disorders DHDDS Sarah Leigh commented on DHDDS
Undiagnosed metabolic disorders HEXA Sarah Leigh reviewed HEXA
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders HADH Sarah Leigh edited their review of HADH
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders HADH Sarah Leigh reviewed HADH
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders GYS1 Sarah Leigh reviewed GYS1
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders GYG1 Sarah Leigh reviewed GYG1
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders GM2A Sarah Leigh reviewed GM2A
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders GLUL Sarah Leigh reviewed GLUL
Undiagnosed metabolic disorders DDC Sarah Leigh commented on DDC
Undiagnosed metabolic disorders GLDC Sarah Leigh reviewed GLDC
Undiagnosed metabolic disorders D2HGDH Sarah Leigh commented on D2HGDH
Undiagnosed metabolic disorders GK Sarah Leigh edited their review of GK
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh commented on CYP7B1
Undiagnosed metabolic disorders GK Sarah Leigh reviewed GK
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh edited their review of GCH1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders GCH1 Sarah Leigh reviewed GCH1
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders GCDH Sarah Leigh reviewed GCDH
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders GAMT Sarah Leigh reviewed GAMT
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders GALT Sarah Leigh reviewed GALT
Undiagnosed metabolic disorders CTSD Sarah Leigh commented on CTSD
Undiagnosed metabolic disorders GALK1 Sarah Leigh reviewed GALK1
Undiagnosed metabolic disorders CTSC Sarah Leigh commented on CTSC
Undiagnosed metabolic disorders GALE Sarah Leigh reviewed GALE
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GALC Sarah Leigh edited their review of GALC
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GALC Sarah Leigh reviewed GALC
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders GAA Sarah Leigh edited their review of GAA
Undiagnosed metabolic disorders CSTB Sarah Leigh commented on CSTB
Undiagnosed metabolic disorders GAA Sarah Leigh reviewed GAA
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders G6PC3 Sarah Leigh reviewed G6PC3
Undiagnosed metabolic disorders CLN8 Sarah Leigh commented on CLN8
Undiagnosed metabolic disorders FXN Sarah Leigh reviewed FXN
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders FUCA1 Sarah Leigh edited their review of FUCA1
Undiagnosed metabolic disorders CLN5 Sarah Leigh commented on CLN5
Undiagnosed metabolic disorders FUCA1 Sarah Leigh reviewed FUCA1
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders FTCD Sarah Leigh reviewed FTCD
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CLDN19 Sarah Leigh commented on CLDN19
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CLDN16 Sarah Leigh commented on CLDN16
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders FGFR2 Sarah Leigh edited their review of FGFR2
Undiagnosed metabolic disorders CBS Sarah Leigh commented on CBS
Undiagnosed metabolic disorders FGFR2 Sarah Leigh reviewed FGFR2
Undiagnosed metabolic disorders ATP7B Sarah Leigh commented on ATP7B
Undiagnosed metabolic disorders FECH Sarah Leigh reviewed FECH
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders FA2H Sarah Leigh edited their review of FA2H
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders FA2H Sarah Leigh reviewed FA2H
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ENO3 Sarah Leigh reviewed ENO3
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders DHODH Sarah Leigh edited their review of DHODH
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DHODH Sarah Leigh reviewed DHODH
Undiagnosed metabolic disorders DHDDS Sarah Leigh reviewed DHDDS
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DHCR7 Sarah Leigh edited their review of DHCR7
Undiagnosed metabolic disorders DHCR7 Sarah Leigh reviewed DHCR7
Undiagnosed metabolic disorders DHCR24 Sarah Leigh edited their review of DHCR24
Undiagnosed metabolic disorders DHCR24 Sarah Leigh reviewed DHCR24
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders DDC Sarah Leigh reviewed DDC
Undiagnosed metabolic disorders D2HGDH Sarah Leigh reviewed D2HGDH
Undiagnosed metabolic disorders CYP7B1 Sarah Leigh reviewed CYP7B1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh edited their review of CYP27A1
Undiagnosed metabolic disorders ATIC Sarah Leigh commented on ATIC
Undiagnosed metabolic disorders CYP27A1 Sarah Leigh reviewed CYP27A1
Undiagnosed metabolic disorders CUBN Sarah Leigh edited their review of CUBN
Undiagnosed metabolic disorders CUBN Sarah Leigh reviewed CUBN
Undiagnosed metabolic disorders CTSK Sarah Leigh edited their review of CTSK
Undiagnosed metabolic disorders CTSK Sarah Leigh reviewed CTSK
Undiagnosed metabolic disorders CTSD Sarah Leigh reviewed CTSD
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders CTSC Sarah Leigh reviewed CTSC
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders CTSA Sarah Leigh edited their review of CTSA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders CTSA Sarah Leigh reviewed CTSA
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders CSTB Sarah Leigh reviewed CSTB
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders CP Sarah Leigh edited their review of CP
Undiagnosed metabolic disorders APOB Sarah Leigh commented on APOB
Undiagnosed metabolic disorders CP Sarah Leigh reviewed CP
Undiagnosed metabolic disorders AMT Sarah Leigh commented on AMT
Undiagnosed metabolic disorders CLN8 Sarah Leigh reviewed CLN8
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders CLN6 Sarah Leigh edited their review of CLN6
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders CLN6 Sarah Leigh reviewed CLN6
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLN5 Sarah Leigh reviewed CLN5
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLN3 Sarah Leigh edited their review of CLN3
Undiagnosed metabolic disorders CLN3 Sarah Leigh reviewed CLN3
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders CLDN19 Sarah Leigh reviewed CLDN19
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders CLDN16 Sarah Leigh reviewed CLDN16
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders CISD2 Sarah Leigh edited their review of CISD2
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh commented on ALDH7A1
Undiagnosed metabolic disorders CISD2 Sarah Leigh reviewed CISD2
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh commented on ALDH5A1
Undiagnosed metabolic disorders CBS Sarah Leigh reviewed CBS
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh commented on ALDH4A1
Undiagnosed metabolic disorders ATP7B Sarah Leigh reviewed ATP7B
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders ALAS2 Sarah Leigh commented on ALAS2
Undiagnosed metabolic disorders ATP7A Sarah Leigh edited their review of ATP7A
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP7A Sarah Leigh reviewed ATP7A
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh edited their review of ATP13A2
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ATP13A2 Sarah Leigh reviewed ATP13A2
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ATIC Sarah Leigh reviewed ATIC
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASPA Sarah Leigh edited their review of ASPA
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASPA Sarah Leigh reviewed ASPA
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ASAH1 Sarah Leigh edited their review of ASAH1
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ASAH1 Sarah Leigh reviewed ASAH1
Undiagnosed metabolic disorders ACY1 Sarah Leigh commented on ACY1
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABCG8 Sarah Leigh commented on ABCG8
Undiagnosed metabolic disorders ARSA Sarah Leigh edited their review of ARSA
Undiagnosed metabolic disorders ABCG5 Sarah Leigh commented on ABCG5
Undiagnosed metabolic disorders ARSA Sarah Leigh reviewed ARSA
Undiagnosed metabolic disorders ABCD4 Sarah Leigh commented on ABCD4
Undiagnosed metabolic disorders APOB Sarah Leigh reviewed APOB
Undiagnosed metabolic disorders AASS Sarah Leigh commented on AASS
Undiagnosed metabolic disorders AMT Sarah Leigh reviewed AMT
Undiagnosed metabolic disorders AMN Sarah Leigh edited their review of AMN
Undiagnosed metabolic disorders AMN Sarah Leigh reviewed AMN
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh reviewed ALPL
Undiagnosed metabolic disorders ALG13 Sarah Leigh edited their review of ALG13
Undiagnosed metabolic disorders ALG13 Sarah Leigh reviewed ALG13
Undiagnosed metabolic disorders ALDH7A1 Sarah Leigh reviewed ALDH7A1
Undiagnosed metabolic disorders ALDH5A1 Sarah Leigh reviewed ALDH5A1
Undiagnosed metabolic disorders ALDH4A1 Sarah Leigh reviewed ALDH4A1
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh edited their review of ALDH3A2
Undiagnosed metabolic disorders ALDH3A2 Sarah Leigh reviewed ALDH3A2
Undiagnosed metabolic disorders ALAS2 Sarah Leigh reviewed ALAS2
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh edited their review of AGA
Undiagnosed metabolic disorders AGA Sarah Leigh reviewed AGA
Undiagnosed metabolic disorders ADSL Sarah Leigh edited their review of ADSL
Undiagnosed metabolic disorders ADSL Sarah Leigh reviewed ADSL
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh edited their review of ADAR
Undiagnosed metabolic disorders ADAR Sarah Leigh reviewed ADAR
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh edited their review of ADA
Undiagnosed metabolic disorders ADA Sarah Leigh reviewed ADA
Undiagnosed metabolic disorders ACY1 Sarah Leigh reviewed ACY1
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh edited their review of ABHD12
Undiagnosed metabolic disorders ABHD12 Sarah Leigh reviewed ABHD12
Undiagnosed metabolic disorders ABCG8 Sarah Leigh reviewed ABCG8
Undiagnosed metabolic disorders ABCG5 Sarah Leigh reviewed ABCG5
Undiagnosed metabolic disorders ABCD4 Sarah Leigh reviewed ABCD4
Undiagnosed metabolic disorders AASS Sarah Leigh reviewed AASS
Undiagnosed metabolic disorders MAT1A Saikat Santra reviewed MAT1A
Undiagnosed metabolic disorders CA5A Saikat Santra reviewed CA5A
Undiagnosed metabolic disorders ACADVL Saikat Santra commented on ACADVL
Undiagnosed metabolic disorders ACADM Saikat Santra reviewed ACADM
Undiagnosed metabolic disorders ACAD9 Saikat Santra reviewed ACAD9
Undiagnosed metabolic disorders ABCD1 Saikat Santra reviewed ABCD1
Undiagnosed metabolic disorders ABAT Saikat Santra reviewed ABAT
Undiagnosed metabolic disorders ABCB7 Saikat Santra reviewed ABCB7
Undiagnosed metabolic disorders AARS2 Saikat Santra reviewed AARS2
Undiagnosed metabolic disorders C10orf2 Louise Daugherty commented on C10orf2
Undiagnosed metabolic disorders LARGE Louise Daugherty commented on LARGE
Undiagnosed metabolic disorders MARS2 Ellen McDonagh commented on MARS2
Undiagnosed metabolic disorders C10orf2 Sarah Leigh added C10orf2 to panel
Undiagnosed metabolic disorders C10orf2 Sarah Leigh reviewed C10orf2
Undiagnosed metabolic disorders LARGE Sarah Leigh added LARGE to panel
Undiagnosed metabolic disorders LARGE Sarah Leigh reviewed LARGE
Undiagnosed metabolic disorders B3GALTL Sarah Leigh added B3GALTL to panel
Undiagnosed metabolic disorders B3GALTL Sarah Leigh reviewed B3GALTL
Undiagnosed metabolic disorders ADCK3 Sarah Leigh added ADCK3 to panel
Undiagnosed metabolic disorders ADCK3 Sarah Leigh reviewed ADCK3
Undiagnosed metabolic disorders ADCK3 Sarah Leigh commented on ADCK3