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Likely inborn error of metabolism - targeted testing not possible v4.130 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 28554942; 28544275 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.129 | MSTO1 | Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.129 | SLC6A19 | Tracy Lester reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.129 | TUSC3 | Arina Puzriakova Publications for gene: TUSC3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.127 | HSD17B10 | Arina Puzriakova Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.125 | GSTZ1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:27876694 and reviewed by Saikat Santra, there are three boys and three girls with maleylacetoacetate isomerase deficiency (MAAID), identified by newborn screening with mildly elevated succinylacetone (SA) by mass spectrometry on dried blood spot. Four of them were identified with homozygous GSTZ1 variants, one with compound heterozygous variants and one with heterozygous variant. Hence, there is sufficient evidence available for the association of biallelic GSTZ1 variants with MAAID and this gene can be promoted to green rating in the next GMS review. |
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Likely inborn error of metabolism - targeted testing not possible v4.123 | GSTZ1 | Achchuthan Shanmugasundram reviewed gene: GSTZ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: [Maleylacetoacetate isomerase deficiency], OMIM:617596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.122 | RNASEH2A | Saikat Santra reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.122 | RNASEH2B | Saikat Santra reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.122 | RNASEH2C | Saikat Santra reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intracerebral calcification disorders, Inherited White Matter Disorders, Inherited basal ganglia disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.122 | GSTZ1 |
Saikat Santra gene: GSTZ1 was added gene: GSTZ1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review,Eligibility statement prior genetic testing Mode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSTZ1 were set to 27876694 Phenotypes for gene: GSTZ1 were set to Biochemical Penetrance for gene: GSTZ1 were set to unknown Review for gene: GSTZ1 was set to GREEN Added comment: GSTZ1 is established as the molecular cause for maleylacetoacetate isomerase deficiency which is an established inherited metabolic disorder and associated with succinylacetone excretion so may be detected on newborn screening programmes for hereditary tyrosinaemia type1 (FAH). The committee established for developing the pathways for rolling this out recommended that genetic testing for GSTZ1 be made available via the R98 panel to help evaluate patients with mild hypersuccinylacetonaemia - but patients with elevated succinylacetone on routine metabolic testing would also benefit from this being available. Sources: Literature, Expert Review, Eligibility statement prior genetic testing |
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Likely inborn error of metabolism - targeted testing not possible v4.122 | COX5A | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.119 | COX5A | Sarah Leigh Publications for gene: COX5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.118 | VPS33A | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.117 | VPS33A |
Sarah Leigh gene: VPS33A was added gene: VPS33A was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Q4_23_promote_green tags were added to gene: VPS33A. Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33A were set to 28013294; 27547915; 31070736 Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 Review for gene: VPS33A was set to GREEN Added comment: This gene has been copied from Lysosomal storage disorder panel: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian population. Supportive functional studies were also presented (PMID 31070736). Sarah Leigh (Genomics England Curator), 17 Mar 2021 Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction. Sources: Expert list Zornitza Stark (Australian Genomics), 22 Jul 2020 Sources: Other |
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Likely inborn error of metabolism - targeted testing not possible v4.116 | VPS16 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.114 | VPS16 |
Sarah Leigh gene: VPS16 was added gene: VPS16 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Q4_23_promote_green tags were added to gene: VPS16. Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS16 were set to 33938619; 34013567 Phenotypes for gene: VPS16 were set to Mucopolysaccharidosis-like syndrome (biallelic); Dystonia Associated with Lysosomal Abnormalities (monoallelic); Dystonia 30, OMIM:619291 Review for gene: VPS16 was set to GREEN Added comment: Copied from Lysosomal storage disorder panel: Four individuals from three families were identified (PMIDs: 33938619; 34013567) exhibiting a mucopolysaccharidosis (MPS)-like lysosomal storage phenotype with short stature, coarse facies, DD or regression, peripheral neuropathy, skeletal dysplasia, neutropenia, and high-normal glycosaminoglycan excretion. All harboured homozygous variants in VPS16 which segregated with disease, including a missense variant in a sib pair (c.540G>T; p.Trp180Cys) and a recurrent intronic variant (c.2272‐18C>A) in two supposedly unrelated patients (although both of Middle Eastern descent). Fibroblasts of the two patients with the intronic variant showed accumulation of lysosomal compartments and autophagosomes with significantly decreased VPS16 mRNA and protein levels, as well as HOPS/CORVET complexes. Cellular phenotypes were rescued upon re-expression of wild-type VPS16. ----- Heterozygous variants, as well as a homozygous missense variant (c.156C>A) found in a consanguineous Chinese family (PMID:27174565), have been found to cause dystonia with variable onset (OMIM:619291). It has been suggested that the discrepancies in patient phenotypes are due to different mechanisms of pathogenicity, where variants causing dystonia do not affect the levels of endolysosomal tethering (HOPS/CORVET) complexes. More research is needed to clarify the mechanisms underlying VPS16-related dystonia as only limited functional data is currently available - Steel et al. 2020 (PMID:32808683) did perform electron microscopic studies of lymphocytes and fibroblasts derived from 2 unrelated patients, which showed vacuolar abnormalities suggestive of impaired lysosomal function. Sources: Literature Arina Puzriakova (Genomics England Curator), 14 Jun 2021 Sources: Other |
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Likely inborn error of metabolism - targeted testing not possible v4.113 | CLCN7 |
Sarah Leigh gene: CLCN7 was added gene: CLCN7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,Literature watchlist tags were added to gene: CLCN7. Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN7 were set to 31155284 Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN | Sarah Leigh reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.111 | GRN |
Sarah Leigh gene: GRN was added gene: GRN was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,NHS GMS,London North GLH Q4_22_promote_green tags were added to gene: GRN. Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRN were set to 22608501; 27021778; 28000352; 28404863; 30922528; 31855245 Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866 |
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Likely inborn error of metabolism - targeted testing not possible v4.110 | CTSF | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.109 | CTSF |
Sarah Leigh gene: CTSF was added gene: CTSF was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: CTSF. Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to 23297359; 25274848 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147 |
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Likely inborn error of metabolism - targeted testing not possible v4.108 | CLCN6 |
Sarah Leigh gene: CLCN6 was added gene: CLCN6 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870 Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Review for gene: CLCN6 was set to RED Added comment: Sources: Other |
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Likely inborn error of metabolism - targeted testing not possible v4.107 | LMF1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.106 | LMF1 |
Sarah Leigh gene: LMF1 was added gene: LMF1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: LMF1. Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMF1 were set to 17994020; 19820022; 30885219; 30420299; 29910226; 22239554 Phenotypes for gene: LMF1 were set to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527 Review for gene: LMF1 was set to GREEN gene: LMF1 was marked as current diagnostic Added comment: LMF1 Familial chylomicronaemia syndrome (FCS) panel. Maggie Williams (North Bristol NHS Trust) [email protected]: Variants in this GENE are reported as part of current diagnostic practice Sources: Expert list |
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Likely inborn error of metabolism - targeted testing not possible v4.105 | GPIHBP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.103 | OSTC |
Sarah Leigh gene: OSTC was added gene: OSTC was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSTC were set to 32267060 Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation |
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Likely inborn error of metabolism - targeted testing not possible v4.102 | EDEM3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.101 | EDEM3 |
Sarah Leigh gene: EDEM3 was added gene: EDEM3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other Q4_23_promote_green tags were added to gene: EDEM3. Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EDEM3 were set to 34143952 Phenotypes for gene: EDEM3 were set to Congenital disorder of glycosylation, type 2V, OMIM:619493 Review for gene: EDEM3 was set to GREEN Added comment: Reviews copied from entry on Congenital disorders of glycosylation panel. There is sufficient evidence to promote this gene to Green at the next GMS panel update. EDEM3 is associated with a relevant phenotype in OMIM (MIM# 619493) and G2P with a 'strong' confidence level assertion. 12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms. (Arina Puzriakova (Genomics England Curator), 18 Jul 2022). PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional studies show loss of EDEM3 enzymatic activity. Sources: Literature (Zornitza Stark (Australian Genomics), 7 Aug 2021). Sources: Other |
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Likely inborn error of metabolism - targeted testing not possible v4.100 | CAMLG |
Sarah Leigh gene: CAMLG was added gene: CAMLG was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMLG were set to 35262690 Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201 |
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Likely inborn error of metabolism - targeted testing not possible v4.99 | ALG10 |
Sarah Leigh gene: ALG10 was added gene: ALG10 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG10 were set to 33798445 Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG |
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Likely inborn error of metabolism - targeted testing not possible v4.98 | MAN2B2 |
Sarah Leigh gene: MAN2B2 was added gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 31775018; 35637269 Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286 |
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Likely inborn error of metabolism - targeted testing not possible v4.97 | COG3 |
Sarah Leigh gene: COG3 was added gene: COG3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG3 were set to 37711075 Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546 |
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Likely inborn error of metabolism - targeted testing not possible v4.95 | NUS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of monoallelic NUS1 variants with intellectual disability and epilepsy, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.93 | NUS1 | Achchuthan Shanmugasundram Publications for gene: NUS1 were set to 25066056; 31656175; 32334381; 32485575; 33731878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.93 | NUS1 | Achchuthan Shanmugasundram Publications for gene: NUS1 were set to 25066056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.91 | NUS1 | Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831, ?Congenital disorder of glycosylation, type 1aa, OMIM:617082; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.90 | ATP5E | Sarah Leigh edited their review of gene: ATP5E: Added comment: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; Changed rating: GREEN; Changed publications to: 27604308, 34954817, 20566710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.90 | ASL | Eleanor Williams Publications for gene: ASL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.87 | LDHD | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.86 | LDHD | Sarah Leigh Publications for gene: LDHD were set to 30931947; 31638601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.83 | ACACA | Sarah Leigh Publications for gene: ACACA were updated from 6114432; 16103361; 34552920; 36709796 to 6114432; 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.82 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 6114432; 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.81 | ACACA | Sarah Leigh reviewed gene: ACACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.81 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.80 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920; 36709796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.80 | ACACA | Sarah Leigh Publications for gene: ACACA were set to 34552920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.77 | LDHD |
Hannah Knight gene: LDHD was added gene: LDHD was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHD were set to 30931947; 31638601 Phenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout Review for gene: LDHD was set to AMBER Added comment: PMID: 30931947 (2019) reported two unrelated patients with homozygous missense variants in LDHD (p.Thr463Met and p.Trp374Cys) PMID: 31638601 (2019) reported a 4-generation consanguineous Bedouin-Israeli family with autosomal recessive hyperuricemia. A homozygous missense variant in LDHD was identified (p.R370W) Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v4.77 | ACACA |
Hannah Knight gene: ACACA was added gene: ACACA was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 34552920 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency Review for gene: ACACA was set to AMBER Added comment: PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v4.77 | PIGM | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.75 | PIGM | Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.74 | PIGM | Hannah Knight reviewed gene: PIGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 31445883; Phenotypes: Glycosylphosphatidylinositol deficiency 610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.74 | HSPA9 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.74 | HSPA9 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.71 | HSPA9 | Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.71 | HSPA9 | Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.70 | HSPA9 | Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to PMID: 26598328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.69 | HSPA9 | Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.68 | ATP5B | Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.65 | ATP5B | Sarah Leigh Publications for gene: ATP5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.63 | PTCD3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.61 | PTCD3 | Sarah Leigh Publications for gene: PTCD3 were set to 30607703; 30706245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.60 | MRM2 | Sarah Leigh Publications for gene: MRM2 were set to 28973171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.59 | MRM2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.57 | SEC23B |
Arina Puzriakova Added comment: Comment on mode of inheritance: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is). Biallelic phenotype remains relevant to this panel (PMID: 35163229). On this basis, the MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel update. |
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Likely inborn error of metabolism - targeted testing not possible v4.56 | SEC23B | Arina Puzriakova Publications for gene: SEC23B were set to 22208203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.55 | HSPA9 | Hannah Knight reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome 616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.52 | SLC6A20 | Sarah Leigh edited their review of gene: SLC6A20: Added comment: The gene disease associations of SLC6A20 with Hyperglycinuria (OMIM:138500) and Iminoglycinuria, digenic (OMIM:242600) have been refuted in OMIM. The single SLC6A20 variant rs17279437 has been reclassified as a polymorphism, because it is present in 19,986 of 278,932 alleles and in 856 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.07165 (Personal Communication to OMIM from Hamosh, A. Baltimore, Md. 3rd April 2023).; Changed rating: RED; Changed phenotypes to: Hyperglycinuria 138500, Iminoglycinuria, digenic 242600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | SPG7 | Arina Puzriakova reviewed gene: SPG7: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | PNPLA2 | Arina Puzriakova reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | OGDH | Arina Puzriakova reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | LETM1 | Arina Puzriakova reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | GCSH | Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | CRLS1 | Arina Puzriakova reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.45 | SLC12A3 | Sarah Leigh Publications for gene: SLC12A3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.43 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.42 | SLC22A5 | Sarah Leigh edited their review of gene: SLC22A5: Added comment: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; Changed rating: GREEN; Changed publications to: 10545605, 11261427; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.41 | ETFB | Sarah Leigh Publications for gene: ETFB were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.37 | ETFA | Sarah Leigh Publications for gene: ETFA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.36 | COASY | Sarah Leigh Publications for gene: COASY were set to 30089828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.35 | LETM1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.34 | LETM1 | Sarah Leigh reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.32 | LETM1 | Sarah Leigh Publications for gene: LETM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.31 | OGDH | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.30 | OGDH | Sarah Leigh reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.28 | OGDH | Sarah Leigh Publications for gene: OGDH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.26 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.27 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.26 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.26 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.26 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.26 | PNPLA2 | Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.25 | PNPLA2 | Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 21544567, 25287355, 25956450, 32269696; Phenotypes: Neutral lipid storage disease with myopathy, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.6 | ATP5O | Arina Puzriakova Publications for gene: ATP5O were set to 34954817; 35621276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.6 | ATP5O | Arina Puzriakova Publications for gene: ATP5O were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.4 | ATP5O | Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.3 | ATP5O | Arina Puzriakova reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817, 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.3 | SPG7 | Sarah Leigh Publications for gene: SPG7 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.20 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.19 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.20 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.20 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.20 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.20 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.19 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.19 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.19 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.18 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.18 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.18 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.18 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.17 | GCSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next NHS GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.15 | GCSH | Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.15 | GCSH | Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.14 | GCSH | Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403; 36190515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.14 | GCSH | Achchuthan Shanmugasundram Publications for gene: GCSH were set to 27604308; 16450403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.13 | GCSH | Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: ?Glycine encephalopathy, OMIM:605899, Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.13 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.13 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.13 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.12 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.12 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.12 | SLC31A1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency. This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM. |
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Likely inborn error of metabolism - targeted testing not possible v3.11 | SLC31A1 |
Achchuthan Shanmugasundram gene: SLC31A1 was added gene: SLC31A1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 35913762; 36562171 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: SLC31A1 was set to AMBER Added comment: PMID:35913762 reported an identical twin male infants identified with homozygous novel missense variant p.Arg95His in CTR1. The twins had hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. In addition, the CSF copper levels were lower and functional studies including structural modelling of the variant showed impaired copper transport. Treatment with copper Histidinate in the patients' cultured cells and in the patients normalized CCO activity and enhanced mitochondrial respiration in vitro, and was associated with modest clinical improvements. PMID:36562171 reported a newborn infant of consanguineous parents with a homozygous pathogenic variant p.Leu79Pro in CTR1. This infant was born with pulmonary hypoplasia. At two weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. Laboratory investigations revealed very low serum concentrations of copper and ceruloplasmin. The infant died at one month of age. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.8 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to Combined oxidative phosphorylation deficiency 57, OMIM:620167 Review for gene: CRLS1 was set to GREEN Added comment: Three individuals from two unrelated families were identified with the same homozygous variant in CRLS1 (p.Ile109Asn). They presented with a mitochondrial disorder characterized by an evolving pattern of cardiomyopathy, encephalopathy, bilateral auditory neuropathy spectrum disorder, bull’s eye maculopathy, diabetes insipidus, autonomic instability and low complex IV activity in skeletal muscle. A fourth individual was identified with a compound heterozygous CRLS1 variant (p.Ala172Asp/ p.Leu217Phe) that presented with developmental regression beginning in late infancy, with acquired microcephaly, sensorineural hearing loss and impaired vision. Lipidomics in fibroblasts from 2 patients demonstrated that cardiolipin was reduced, cardiolipin acyl side chains had an abnormal distribution, and substrates of CRLS1 were abnormally elevated, including an elevation of phosphatidylglycerol. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.7 | GABRG2 | Achchuthan Shanmugasundram Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | XPNPEP3 | Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | PDK3 | Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | GORAB | Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | UQCRFS1 | Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | UQCRC2 | Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | TIMMDC1 | Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | TFAM | Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | STT3A | Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NSUN3 | Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NFS1 | Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NDUFB10 | Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NDUFA8 | Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NDUFA13 | Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | LYRM4 | Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | ATP5G3 | Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | ATP5A1 | Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.2 | SLC26A6 |
Arina Puzriakova gene: SLC26A6 was added gene: SLC26A6 was added to Inborn errors of metabolism. Sources: Literature watchlist tags were added to gene: SLC26A6. Mode of inheritance for gene: SLC26A6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC26A6 were set to 35115415 Phenotypes for gene: SLC26A6 were set to Enteric hyperoxaluria and nephrolithiasis Added comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969) SLC26A6 is currently not associated with any human phenotype in OMIM or G2P. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.329 | ARSK | Arina Puzriakova Added comment: Comment on list classification: Rating Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.328 | ARSK |
Arina Puzriakova gene: ARSK was added gene: ARSK was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSK were set to 34916232 Phenotypes for gene: ARSK were set to Mucopolysaccharidoses with short stature, coarse facial features and dysostosis multiplex Review for gene: ARSK was set to AMBER Added comment: Verheyen et al. 2022 (PMID: 34916232) reported four affected individuals of two unrelated consanguineous families with homozygous variants c.250C>T, p.(Arg84Cys) and c.560T>A, p.(Leu187Ter) in ARSK, respectively. Patients were affected with skeletal dysplasia, resembling spondyloepiphysial dysplasia. Reverse phenotyping in two individuals from one family revealed additional cardiac and ophthalmological abnormalities. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.326 | GPHN | Arina Puzriakova Publications for gene: GPHN were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.321 | ST3GAL3 | Sarah Leigh Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.317 | UQCRC2 | Arina Puzriakova Publications for gene: UQCRC2 were set to 28275242; 23281071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.315 | UQCRC1 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.314 | UQCRC1 | Arina Puzriakova Publications for gene: UQCRC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.310 | NFS1 | Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.309 | NFS1 | Arina Puzriakova reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24498631, 33457206; Phenotypes: Combined oxidative phosphorylation deficiency 52, OMIM: 619386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.308 | NFS1 | Arina Puzriakova Publications for gene: NFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.305 | SDHA | Arina Puzriakova Publications for gene: SDHA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.302 | QRSL1 | Arina Puzriakova Publications for gene: QRSL1 were set to 29440775; 26741492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.301 | POLG2 | Arina Puzriakova Publications for gene: POLG2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.299 | CLPB | Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.296 | UQCRFS1 | Arina Puzriakova Publications for gene: UQCRFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.294 | TIMMDC1 | Arina Puzriakova Publications for gene: TIMMDC1 were set to 28604674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.292 | TFAM | Arina Puzriakova Publications for gene: TFAM were set to 27448789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.287 | NSUN3 | Arina Puzriakova Publications for gene: NSUN3 were set to 27356879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.284 | NDUFB10 | Arina Puzriakova Publications for gene: NDUFB10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.280 | NDUFA8 | Arina Puzriakova Publications for gene: NDUFA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.276 | NDUFA13 | Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.274 | NDUFA12 | Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.272 | LYRM4 | Arina Puzriakova Publications for gene: LYRM4 were set to 23814038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.269 | ATP5G3 | Arina Puzriakova Publications for gene: ATP5G3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.267 | ATP5A1 | Arina Puzriakova Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | UQCRC2 | Arina Puzriakova reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28275242, 23281071, 33865955; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | SDHA | Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683074, 10976639, 33471299; Phenotypes: Cardiomyopathy, dilated, 1GG, OMIM: 613642, Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | UQCRFS1 | Arina Puzriakova reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | TIMMDC1 | Arina Puzriakova reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28604674, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | TFAM | Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 32399598, 27448789, 31785789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | NSUN3 | Arina Puzriakova reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM: 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | NDUFB10 | Arina Puzriakova reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730, 32025618, 33169436; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | NDUFA8 | Arina Puzriakova reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153867, 32385911; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | NDUFA13 | Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | LYRM4 | Arina Puzriakova reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31497476, 23814038; Phenotypes: Combined oxidative phosphorylation deficiency 19, OMIM: 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | ATP5G3 | Arina Puzriakova edited their review of gene: ATP5G3: Added comment: This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R357 and R63). As there is sufficient supporting evidence, the rating should also be updated to Green on this panel at the next GMS review.; Changed rating: GREEN; Changed publications to: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | ATP5A1 | Arina Puzriakova reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34483339, 23596069, 23599390, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228, Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.261 | STT3A | Arina Puzriakova Publications for gene: STT3A were set to 23842455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.257 | ACO2 | Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.257 | ACO2 | Sarah Leigh Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.256 | IDH1 | Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.254 | PRODH |
Sarah Leigh Added comment: Comment on list classification: Evidence for the association of PRODH variants with Hyperprolinemia, type I, OMIM; 239500 has been classified as Definitive by ClinGen Aminoacidopathy Gene Curation Expert Panel on 04/27/2021 (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z). |
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Likely inborn error of metabolism - targeted testing not possible v2.243 | C19orf12 | Sarah Leigh edited their review of gene: C19orf12: Added comment: Monfrini et al (PMID: 29295770) and Gregory et al (PMID: 31087512) have reported heterozygous pathogenic C19ORF12 variants in patients with neurodegeneration with brain iron accumulation 4 (OMIM: 614298). Therefore, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; Changed publications to: 29295770, 31087512; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.242 | C19orf12 | Sarah Leigh Publications for gene: C19orf12 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.235 | SPTLC1 | Sarah Leigh Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.233 | QARS | Sarah Leigh Publications for gene: QARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.220 | CPT2 | Arina Puzriakova Publications for gene: CPT2 were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.218 | XPNPEP3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.216 | XPNPEP3 | Sarah Leigh Publications for gene: XPNPEP3 were set to PMID: 20179356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.213 | PDK3 | Arina Puzriakova Publications for gene: PDK3 were set to 27604308; 26801680; 28902413; 23297365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.212 | PDK3 | Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413, 32504000, 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.212 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765; 31550240; 31550237; 30412255; 31479473; 31479473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.210 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to 31298765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.208 | TARS2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.206 | TARS2 | Sarah Leigh Added comment: Comment on publications: PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.206 | TARS2 | Sarah Leigh Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.205 | TARS2 | Sarah Leigh reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.203 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders to Aicardi-Goutieres syndrome 2, OMIM:610181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.199 | CLPB | Arina Puzriakova Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 25595726 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.197 | CLPB | Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.195 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733; Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Developmental and epileptic encephalopathy 71, OMIM:618328; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.188 | EHBP1L1 |
Sarah Leigh gene: EHBP1L1 was added gene: EHBP1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1 Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369 Penetrance for gene: EHBP1L1 were set to unknown |
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Likely inborn error of metabolism - targeted testing not possible v2.187 | EHHADH | Arina Puzriakova Added comment: Comment on list classification: Single family reported with additional functional data which is sufficient evidence to rate as Amber, awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.185 | EHHADH | Arina Puzriakova Publications for gene: EHHADH were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.183 | EHHADH | Arina Puzriakova reviewed gene: EHHADH: Rating: ; Mode of pathogenicity: None; Publications: 24401050, 27160910; Phenotypes: ?Fanconi renotubular syndrome 3, OMIM:615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.183 | ACAT2 | Arina Puzriakova Publications for gene: ACAT2 were set to PMID:33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.182 | ACAT2 | Arina Puzriakova Phenotypes for gene: ACAT2 were changed from Developmental delay to ?ACAT2 deficiency, OMIM:614055; Increased serum lactate and pyruvate; High levels of ketones; Low levels of cytosolic acetoacetyl-CoA thiolase; Hypotonia; Severe developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.181 | ACAT2 | Arina Puzriakova Classified gene: ACAT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.181 | ACAT2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Andžela Lazdāne. Currently associated with a provisional phenotype in OMIM (?ACAT2 deficiency, OMIM:614055) and not yet listed in G2P. In the 2 cases reported to date (PMIDs: 20597, 6150136), diagnoses were made based on molecular rather than genetic findings. Rating Red as at present there is no published evidence of deleterious variants in the ACAT2 gene leading to this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.181 | ACAT2 | Arina Puzriakova Gene: acat2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.171 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525; 23307945 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.171 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213; 12417525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.169 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.168 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.168 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 27678447; 16200213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.167 | PIGS |
Arina Puzriakova gene: PIGS was added gene: PIGS was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: PIGS. Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to 30269814 Phenotypes for gene: PIGS were set to Glycosylphosphatidylinositol biosynthesis defect 18 618143 |
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Likely inborn error of metabolism - targeted testing not possible v2.166 | GMPPA |
Arina Puzriakova gene: GMPPA was added gene: GMPPA was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list for-review tags were added to gene: GMPPA. Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPA were set to 24035193; 28574218 Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) |
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Likely inborn error of metabolism - targeted testing not possible v2.165 | GALNT2 |
Arina Puzriakova gene: GALNT2 was added gene: GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature for-review tags were added to gene: GALNT2. Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT2 were set to 27508872; 32293671 Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885 |
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Likely inborn error of metabolism - targeted testing not possible v2.164 | FUK |
Arina Puzriakova gene: FUK was added gene: FUK was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list watchlist, new-gene-name tags were added to gene: FUK. Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUK were set to 30503518 Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 |
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Likely inborn error of metabolism - targeted testing not possible v2.163 | EOGT |
Arina Puzriakova gene: EOGT was added gene: EOGT was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: EOGT. Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784; 31368252; 29924900 Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124 |
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Likely inborn error of metabolism - targeted testing not possible v2.162 | SSR3 |
Arina Puzriakova gene: SSR3 was added gene: SSR3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SSR3 were set to 30945312 Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation |
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Likely inborn error of metabolism - targeted testing not possible v2.161 | CSGALNACT1 |
Arina Puzriakova gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Inborn errors of metabolism. Sources: Expert list,Expert Review Amber for-review tags were added to gene: CSGALNACT1. Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 31705726; 31325655; 31705726 Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 |
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Likely inborn error of metabolism - targeted testing not possible v2.160 | B4GALNT1 |
Arina Puzriakova gene: B4GALNT1 was added gene: B4GALNT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: B4GALNT1. Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 23746551; 24103911 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213 |
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Likely inborn error of metabolism - targeted testing not possible v2.159 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.157 | APOA1 | Sarah Leigh Publications for gene: APOA1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.154 | EHHADH |
Andžela Lazdāne gene: EHHADH was added gene: EHHADH was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: EHHADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHHADH were set to PMID: 33340416 Phenotypes for gene: EHHADH were set to L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine Review for gene: EHHADH was set to AMBER Added comment: Fanconi renotubular syndrome type 3. The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation. IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.154 | IDH1 |
Andžela Lazdāne gene: IDH1 was added gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH1 were set to PMID: 33340416 Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine Review for gene: IDH1 was set to AMBER Added comment: Isocitrate dehydrogenase 1 deficiency. IEM Nosology Group (IEMbase):Disorders of the Krebs cycle. The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 | Andžela Lazdāne reviewed gene: ACAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:33340416; Phenotypes: Developmental delay; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 |
Andžela Lazdāne commented on gene: ACAT2: ACAT2 gene is included in international classification of inherited metabolic disorders (ICIMD). |
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Likely inborn error of metabolism - targeted testing not possible v2.154 | ACAT2 |
Andžela Lazdāne gene: ACAT2 was added gene: ACAT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: ACAT2 was set to Unknown Publications for gene: ACAT2 were set to PMID:33340416 Phenotypes for gene: ACAT2 were set to Developmental delay Review for gene: ACAT2 was set to AMBER Added comment: Acetoacetyl-CoA thiolase deficiency (cytosolic) IEM Nosology Group:Disorders of ketone body metabolism Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.154 | PEX6 | Sarah Leigh Publications for gene: PEX6 were set to 27604308; 29220678; 20301621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.153 | PEX6 | Sarah Leigh Publications for gene: PEX6 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.152 | PEX6 | Sarah Leigh reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220678, 20301621; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862, peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930, Peroxisome biogenesis disorder 4B OMIM:614863, peroxisome biogenesis disorder 4B MONDO:0013931; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.150 | CLPB | Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.148 | ALDH18A1 | Sarah Leigh Publications for gene: ALDH18A1 were set to 27604308; 24816252; 29903433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.147 | ALDH18A1 | Sarah Leigh Publications for gene: ALDH18A1 were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.145 | FAR1 | Arina Puzriakova Publications for gene: FAR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.144 | FAR1 | Arina Puzriakova Added comment: Comment on list classification: In view of the normal metabolic screening (excluding very specific functional work, which will not be in routine NHS practice) there is no clear alignment with the metabolic panels and therefore FAR1 should be demoted from Green to Red at the next GMS panel update (discussed with Helen Brittain, Genomic England Clinical Team) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.143 | FAR1 | Arina Puzriakova reviewed gene: FAR1: Rating: RED; Mode of pathogenicity: None; Publications: 25439727, 30561787, 33239752; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.143 | NUS1 | Dmitrijs Rots reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33731878, 32334381, 32485575, 31656175, 25066056; Phenotypes: intellectual disability, seizures, ataxia, tremor, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.143 | NUS1 | Dmitrijs Rots reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33731878; Phenotypes: intellectual disability, seizures, ataxia, dystonia, tremor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.141 | NAXD | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.141 | NAXD |
Ivone Leong gene: NAXD was added gene: NAXD was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: NAXD. Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410; 33224489; 31755961 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 |
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Likely inborn error of metabolism - targeted testing not possible v2.130 | WFS1 | Eleanor Williams Publications for gene: WFS1 were set to 27604308; 30171196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.129 | WFS1 | Eleanor Williams reviewed gene: WFS1: Rating: ; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.129 | OCRL | Eleanor Williams Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.127 | OCRL | Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.126 | OPA1 | Sarah Leigh Publications for gene: OPA1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.122 | NDUFB7 | Sarah Leigh Added comment: Comment on list classification: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.121 | NDUFB7 | Sarah Leigh Publications for gene: NDUFB7 were set to 33502047; 27626371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.121 | NDUFB7 | Sarah Leigh Publications for gene: NDUFB7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.119 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.119 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.118 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.118 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308; 33715266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.117 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 21617257; 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.116 | NDUFA12 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.114 | DPM2 | Arina Puzriakova Publications for gene: DPM2 were set to 23109149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.105 | ALDH5A1 | Sarah Leigh Publications for gene: ALDH5A1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.72 | ACAT1 | Eleanor Williams Source: Expert Review Red was removed from gene: ACAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.66 | NDUFC2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.65 | NDUFC2 | Sarah Leigh Publications for gene: NDUFC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.63 | POMK | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.62 | POMK | Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.61 | POMK | Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.59 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.56 | GORAB | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.55 | TRAPPC11 | Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.53 | TRAPPC11 | Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26912795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | TRAPPC11 | Sarah Leigh reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | ACSF3 | Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | AASS | Zornitza Stark reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: None; Publications: 23570448; Phenotypes: Hyperlysinemia, MIM# 238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | PNPLA2 |
Zornitza Stark gene: PNPLA2 was added gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717 Review for gene: PNPLA2 was set to GREEN Added comment: PLPLA2 is a triglyceride lipase and this is a lipid storage disorder. Sources: Expert Review |
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Likely inborn error of metabolism - targeted testing not possible v2.51 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 23519211; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) Review for gene: POMK was set to GREEN gene: POMK was marked as current diagnostic Added comment: Other enzyme deficiencies causing dystroglycanopathies are included in the panel. Sources: Expert Review |
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Likely inborn error of metabolism - targeted testing not possible v2.51 | STT3A | Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | TTC37 | Zornitza Stark reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | MSMO1 | Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.50 | GLS_GCA |
Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases and supportive functional data for inclusion as diagnostic-grade. However, detection of this 5' UTR triplet expansion must first be validated within the Genomics England pipeline. In the meantime, rating Red but will raise the STR for validation with the Rare Disease team. |
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Likely inborn error of metabolism - targeted testing not possible v2.49 | GLS_GCA |
Arina Puzriakova STR: GLS_GCA was added STR: GLS_GCA was added to Inborn errors of metabolism. Sources: Literature STR, NGS Not Validated, for-review tags were added to STR: GLS_GCA. Mode of inheritance for STR: GLS_GCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GLS_GCA were set to 30970188 Phenotypes for STR: GLS_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733 Review for STR: GLS_GCA was set to GREEN Added comment: GLS is associated with relevant phenotypes in OMIM, but currently is not in Gene2Phenoype. ---------- - PMID: 30970188 (2019) - Three unrelated cases who presented with an early-onset global developmental delay, progressive ataxia, and elevated levels of glutamine (MIM# 618412). One patient also showed cerebellar atrophy. All 3 individuals harboured a large trinucleotide (GCA) repeat expansion in the 5' UTR (length: 680-1,500-copy repeats). The repeat expansion was found in homozygosity in 1 case, and occurred in compound heterozygosity with an SNV in the other two cases (missense and frameshift variant, respectively). Functional analysis showed the repeat expansion results in reduced expression and glutaminase deficiency. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.48 | GLS |
Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases, supported by functional data, to rate this gene Green - however, detection of the 5' UTR triplet expansion (PMID:30970188) has not yet been validated within the Genomics England pipeline. When excluding cases with the STR, the remaining evidence is not sufficient for inclusion as diagnostic-grade and therefore this gene is tagged 'for-review' to assess whether it should be downgraded to Amber until the STR is validated or additional cases arise. |
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Likely inborn error of metabolism - targeted testing not possible v2.47 | GLS | Arina Puzriakova Phenotypes for gene: GLS were changed from Glucosidase 1 deficiency (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 71 618328; Global developmental delay, progressive ataxia, and elevated glutamine 618412 to Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412; Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733; Developmental and epileptic encephalopathy 71, OMIM:618328; Developmental and epileptic encephalopathy, 71, MONDO:0032678; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.46 | GLS | Arina Puzriakova Publications for gene: GLS were set to 27604308; 30575854; 29468182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.44 | GLS | Arina Puzriakova reviewed gene: GLS: Rating: ; Mode of pathogenicity: None; Publications: 30970188, 30575854, 30239721; Phenotypes: Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412, Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733, Developmental and epileptic encephalopathy 71, OMIM:618328, Developmental and epileptic encephalopathy, 71, MONDO:0032678, ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.44 | NUS1 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber on advice from Genomics England clinical team. 1 case plus some functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.43 | NUS1 | Eleanor Williams Publications for gene: NUS1 were set to 25066056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.42 | NUS1 | Eleanor Williams Publications for gene: NUS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.41 | NUS1 | Eleanor Williams edited their review of gene: NUS1: Added comment: Provisionally associated with ?Congenital disorder of glycosylation, type 1aa #617082 (AR) in OMIM based on family reported in Park et al 2014 (PMID: 25066056). They describe a family of Roma origin in which 2 out of 4 siblings presented with congenital scoliosis, severe neurological impairment, refractory epilepsy, hearing deficit and visual impairment with discrete bilateral macular lesions. A homozgyous missense mutation, R290H, was found in NUS1 (called NGBR in the paper) by exome sequencing. It segregated with the disease in the family. Patient fibroblasts showed reduced dolichol profiles and enhanced accumulation of free cholesterol as do fibroblasts from mice lacking NgBR.; Changed publications: 25066056; Changed phenotypes: ?Congenital disorder of glycosylation, type 1aa OMIM:617082, congenital disorder of glycosylation, type IAA MONDO:0014904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.41 | NUS1 | Eleanor Williams reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Congenital disorder of glycosylation, type 1aa 617082 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.40 | MPI | Arina Puzriakova Publications for gene: MPI were set to 10980531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.38 | SHMT2 | Arina Puzriakova Added comment: Comment on list classification: New gene added as Amber but can be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.37 | SHMT2 |
Arina Puzriakova gene: SHMT2 was added gene: SHMT2 was added to Inborn errors of metabolism. Sources: Literature for-review tags were added to gene: SHMT2. Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Review for gene: SHMT2 was set to GREEN Added comment: PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. Clinical features include dysmorphism, congenital microcephaly, hypertrophic cardiomyopathy or atrial-septal defects, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. SHMT2 encodes the mitochondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF. While plasma metabolites were within normal range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts, decrease in glycine/serine ratios, impaired folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.35 | HS2ST1 |
Ivone Leong gene: HS2ST1 was added gene: HS2ST1 was added to Inborn errors of metabolism. Sources: Literature for-review tags were added to gene: HS2ST1. Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies Review for gene: HS2ST1 was set to AMBER Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum, skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene should be considered for Green gene rating status at the next review. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.33 | ALDH7A1 | Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.32 | COX6B1 | Arina Puzriakova Publications for gene: COX6B1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.29 | SCO1 | Arina Puzriakova Publications for gene: SCO1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.25 | GALM |
Ivone Leong gene: GALM was added gene: GALM was added to Inborn errors of metabolism. Sources: Expert Review,Literature for-review tags were added to gene: GALM. Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to Galactosemia IV, 618881 Review for gene: GALM was set to GREEN Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review. Review from Zornitza Stark (Australian Genomics) on the Cholestasis panel: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) Note only two individuals were reported as having transient cholestasis. Sources: Literature Zornitza Stark (Australian Genomics), 2 May 2020 Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.24 | SLC5A6 | Sarah Leigh changed review comment from: Comment on list classification: Based on five variants in three unrelated cases, together with supportive aminal model studies.; to: Comment on list classification: Based on five variants in three unrelated cases, together with supportive animal model studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.24 | SLC5A6 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.21 | AHCY | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.21 | AHCY | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.20 | AHCY | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder caused by variants in AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.20 | AHCY | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - multiple unrelated families with this neurometabolic disorder due to variants in AHCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.19 | AHCY | Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.19 | AHCY | Arina Puzriakova Publications for gene: AHCY were set to 15024124; 16435181; 16736098; 20852937; 22959829; 26095522; 26527160; 28779239; 30121674; 31957987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.19 | AHCY | Arina Puzriakova Publications for gene: AHCY were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.18 | AHCY | Arina Puzriakova reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024124, 16435181, 16736098, 20852937, 22959829, 26095522, 26527160, 28779239, 30121674, 31957987; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.18 | CHCHD10 | Eleanor Williams Publications for gene: CHCHD10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.17 | CHCHD10 | Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.17 | TKFC | Arina Puzriakova Added comment: Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.16 | TKFC |
Arina Puzriakova gene: TKFC was added gene: TKFC was added to Inborn errors of metabolism. Sources: Literature watchlist tags were added to gene: TKFC. Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, 618805 Review for gene: TKFC was set to AMBER Added comment: Associated with phenotype in OMIM, and a possible gene for TKFC-related Cataracts and Multisystem Disease in G2P. PMID: 32004446 (2020) - Two sib pairs from two unrelated consanguineous families with an inborn error of metabolism caused by distinct homozygous variants in TKFC. In Family 1, both sibs had congenital cataracts but otherwise presented disparate phenotypes. The older sister had DD (motor and speech) and cerebellar hypoplasia; while the younger sister had liver dysfunction and fatal cardiomyopathy at 11 weeks with severe lactic acidosis following a febrile illness. In Family 2, the brother exhibited global DD as well as bilateral cataracts at 22 months. He developed progressive non-cholestatic liver failure, and at 3yrs-10months he could not walk independently and had no words. His older sister, had delayed speech development and learning difficulties, but is otherwise well and did not have cataracts. Both variants segregated with disease in each family, and some functional data of the variants using yeast cells. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.15 | NGLY1 | Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.15 | ALG14 | Sarah Leigh Publications for gene: ALG14 were set to 27604308; 23404334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.14 | ALG14 | Sarah Leigh Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.13 | DPYS | Eleanor Williams Publications for gene: DPYS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.11 | DDC | Sarah Leigh Publications for gene: DDC were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.10 | SLC5A6 | Sarah Leigh Added comment: Comment on list classification: Based on five variants in three unrelated cases, together with supportive aminal model studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.9 | SLC5A6 |
Sarah Leigh gene: SLC5A6 was added gene: SLC5A6 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 27904971; 31392107; 31754459; 23104561; 29669219 Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder Review for gene: SLC5A6 was set to GREEN Added comment: Not associated with phenotype in OMIM and as possible Gen2Phen gene for SLC5A6-related Neurodevelopmental Disorder. At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107). Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v2.7 | TANGO2 | Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.6 | TANGO2 | Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781; 30245509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.6 | TANGO2 | Sarah Leigh Publications for gene: TANGO2 were set to 26805782; 26805781 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.4 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.1 | PCYT2 |
Sarah Leigh edited their review of gene: PCYT2: Added comment: Vaz et al. (2019 - PMID: 31637422 - DDD study among the co-authors) report on 5 individuals - from 4 families - with biallelic PCYT2 mutations. The phenotype corresponded to a complex hererditary paraplegia with global DD, regression (4/5), ID (mild in 3/5, severe in 2/5), spastic para-/tetraparesis, epilepsy (5/5 - variable onset 2-16 yrs - focal or tonic-clonic seizures) and progressive cerebral and cerebellar atrophy. Exome sequencing in all revealed biallelic PCYT2 variants, confirmed with Sanger s. in probands and their parents (NM_001184917.2 - corresponding to the canonical transcript used as Ref below): - P1 (Fam1) : 2 missense SNVs in trans configuration, c.730C>T or p.His244Tyr and c.920C>T or p.Pro307Leu - P2 (Fam2 - consanguineous of White British origin), P3 (Fam3 - Consanguineous of Turkish origin), P4,5 (Fam4 - consanguineous, unspecified origin) : homozygosity for c.1129C>T or p.Arg377Ter) affecting the last exon of 8/12 transcripts, including the canonical one. Individuals with the same genotype displayed variable degrees of ID (eg P3 - severe / P2, P4,5 - mild ID). For sibs in Fam4, homozygosity for a missense SACS variant led to consideration of the respective disorder (AR spastic ataxia of Charlevoix-Saguenay) though the variant was predicted to be tolerated in silico and notably the MRI images not suggestive. All variants were absent from / had extremely low AF in public databases, with no homozygotes. Posphatidylethanolamine (PE) is a membrane lipid, particularly enriched in human brain (45% of phospholypid fraction). PE is synthesized either via the CDP-ethanolamine pathway or by decarboxylation of phosphatidylserine in mitochondria. PCYT2 encodes CTP:phosophoethanolamine cytidyltransferase (ET) which is an ubiquitously expressed rate-limiting enzyme for PE biosynthesis in the former pathway. In silico, the 2 missense variants - localizing in the CTP catalytic domain 2 - were predicted to be damaging, as well as to affect protein stability. Fibroblasts of 3 patients (P1, P2, P3) representing all variants were studied: - Enzymatic activity was shown to be significantly reduced (though not absent) compared to controls. Abnormalities were noted upon Western Blot incl. absence in all 3 patients studied of one of the 2 bands normally found in controls (probably representing the longer isoform), reduced intensity in all 3 of another band probably corresponding to a shorter isoform, and presence of an additional band of intermediate molec. mass in patients with the truncating variant. - RT-PCR on mRNA from patient fibroblasts did not reveal (significant) reduction compared to controls. - Lipidomic profile of patient fibroblasts was compatible with the location of the block in the phospholipid biosynthesis pathway and different from controls. The lipidomic profile had similarities with what has been reported for EPT1 deficiency, the enzyme directly downstream of ET. The SELENO1-related phenotype (/EPT1 deficiency) is also highly overlapping. CRISPR-Cas9 was used to generate pcyt2 partial or complete knockout (ko) zebrafish, targeting either the final (ex13) or another exon (ex3) respectively. mRNA expression was shown to be moderately reduced in the first case and severely reduced/absent in the second, compared to wt. Similarly, complete-ko (ex3) led to significantly lower survival, with impaired though somewhat better survival of partial-ko (ex13) zebrafish. Complete knockout of Pcyt2 in mice is embryonically lethal (PMID cited: 17325045) while heterozygous mice develop features of metabolic syndrome (PMID cited: 22764088). Given lethality in knockout zebrafish / mice and the residual activity (15-20%) in patient fibroblasts, the variants reported were thought to be hypomorphic and complete loss of function possibly incompatible with life. PCYT2 is not associated with any phenotype in OMIM/G2P/SysID and not commonly included in gene panels for ID. As a result this gene could included in the ID / epilepsy panels with green (~/>3 indiv/fam/variants with the nonsense found in different populations, consistent phenotype, lipidomics, in silico/in vitro/in vivo evidence) or amber rating. [Please consider inclusion in other possibly relevant panels eg. for metabolic disorders, etc]. Sources: Literature Konstantinos Varvagiannis (Other), 11 Nov 2019; Changed rating: GREEN |
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Likely inborn error of metabolism - targeted testing not possible v2.1 | PCYT2 |
Sarah Leigh gene: PCYT2 was added gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088 Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy Review for gene: PCYT2 was set to RED Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v1.425 | CYCS | Sarah Leigh reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.425 | PDK3 |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies. The phenotype of ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905, is not relevant to the "Inborn errors of metabolism" panel, which is why it is rated Amber (clinical opinion of Helen Britain, GEL Clinical Fellow). |
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Likely inborn error of metabolism - targeted testing not possible v1.422 | TMEM199 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.421 | ALG2 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to feedback from the GMS Metabolic Specialist disease test group. Information provided: 1 patient described with functional studies carried out: Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an ALG2 mutation (PMID: 12684507). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Classified gene: BCAT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.420 | BCAT2 | Ellen McDonagh Gene: bcat2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.419 | BCAT2 | Ellen McDonagh commented on gene: BCAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.419 | BCAT2 | Ellen McDonagh Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.418 | BCAT2 | Ellen McDonagh Tag treatable tag was added to gene: BCAT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.418 | BCAT2 | Ellen McDonagh Publications for gene: BCAT2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.417 | UPB1 | Ellen McDonagh Added comment: Comment on list classification: Based on new review by metabolic disease specialist on behalf of the GMS metabolic specialist tets group, and additional publications, this gene has been promoted from Red to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.416 | UPB1 | Ellen McDonagh Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.415 | UPB1 | Ellen McDonagh Publications for gene: UPB1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.414 | GLS | Ellen McDonagh changed review comment from: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications.; to: Comment on phenotypes: This gene now appears in OMIM with a disease due to new publications. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.414 | GLS | Ellen McDonagh Added comment: Comment on phenotypes: This gene now appears in OMIm with a disease due to new publications. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.413 | GLS | Ellen McDonagh Added comment: Comment on list classification: Due to expert review, evidence of 2 unrelated families for loss-of-function variants and further evidence for the role of this gene with an STR reported, this gene has been promoted from Red to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.411 | GLS | Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.411 | GLS | Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.411 | GLS | Ellen McDonagh Added comment: Comment on publications: PMID: 30575854 - 2 families reported with 4 infants who had homozyous/compound heterozygous loss-of-function variants in this gene resulting in early neonatal epileptic encephalopathy with glutaminase deficiency and a lethal outcome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.411 | GLS | Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.410 | GLS | Ellen McDonagh Added comment: Comment on publications: PMID: 30970188 - short tandem repeat (STR) reported in this gene to cause an inborn error of metabolism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.410 | GLS | Ellen McDonagh Publications for gene: GLS were set to 27604308; 30575854; 29468182 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.409 | GLS | Ellen McDonagh Publications for gene: GLS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | YME1L1 |
Catherine Snow gene: YME1L1 was added gene: YME1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YME1L1 were set to 27495975 Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | TMEM65 |
Catherine Snow gene: TMEM65 was added gene: TMEM65 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM65 were set to 28295037 Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | TIMMDC1 |
Catherine Snow gene: TIMMDC1 was added gene: TIMMDC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMMDC1 were set to 28604674 Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | TFAM |
Catherine Snow gene: TFAM was added gene: TFAM was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | SSBP1 |
Catherine Snow gene: SSBP1 was added gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SSBP1 were set to 31298765 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | SLC25A32 |
Catherine Snow gene: SLC25A32 was added gene: SLC25A32 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A32 were set to 26933868; 28443623 Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | PTCD3 |
Catherine Snow gene: PTCD3 was added gene: PTCD3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703; 30706245 Phenotypes for gene: PTCD3 were set to low birth weight, mental retardation, and optic atrophy |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | PET117 |
Catherine Snow gene: PET117 was added gene: PET117 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to lesions in the medulla oblongata |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | NSUN3 |
Catherine Snow gene: NSUN3 was added gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to 27356879 Phenotypes for gene: NSUN3 were set to Combined mitochondrial respiratory chain complex deficiency |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | MSTO1 |
Catherine Snow gene: MSTO1 was added gene: MSTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 28554942; 28544275 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | MRPS14 |
Catherine Snow gene: MRPS14 was added gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS14 were set to 30358850 Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, 618378 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | MRM2 |
Catherine Snow gene: MRM2 was added gene: MRM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRM2 were set to 28973171 Phenotypes for gene: MRM2 were set to ?Mitochondrial DNA depletion syndrome 17, 618567 |
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Likely inborn error of metabolism - targeted testing not possible v1.406 | ERAL1 |
Catherine Snow gene: ERAL1 was added gene: ERAL1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERAL1 were set to 28449065 Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565 |
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Likely inborn error of metabolism - targeted testing not possible v1.404 | COASY |
Catherine Snow gene: COASY was added gene: COASY was added to Inborn errors of metabolism. Sources: Expert list Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 30089828 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 Review for gene: COASY was set to AMBER Added comment: COASY has sufficient evidence to be made Green however as it has been purposefully not rated by experts as Green on Mitochondrial Panels COASY will be rated as Amber. Sources: Expert list |
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Likely inborn error of metabolism - targeted testing not possible v1.403 | MRPS7 | Catherine Snow Publications for gene: MRPS7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.400 | UQCC3 | Catherine Snow Publications for gene: UQCC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.400 | UQCC3 | Catherine Snow changed review comment from: Comment on list classification: Promoting to Amber as some evidence is avaliable; to: Comment on list classification: Promoting to Amber as some evidence is available | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.399 | UQCC3 | Catherine Snow Added comment: Comment on list classification: Promoting to Amber as some evidence is avaliable | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.398 | UQCC2 | Catherine Snow Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.397 | UQCC2 | Catherine Snow Publications for gene: UQCC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.397 | UQCC2 | Catherine Snow Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.390 | SETX | Catherine Snow reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile, 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.389 | SKIV2L | Catherine Snow reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 30397475; Phenotypes: Trichohepatoenteric syndrome 2, 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.387 | SLC12A3 | Catherine Snow reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22009145; Phenotypes: Gitelman syndrome, 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.386 | SLC18A2 | Catherine Snow reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240161, 23363473, 26497564, 28716265; Phenotypes: ?Parkinsonism-dystonia, infantile, 2, 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.385 | SLC35A2 | Catherine Snow reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30746764; Phenotypes: Congenital disorder of glycosylation, type IIm, 300896; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.384 | SLC3A1 | Catherine Snow reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12239244; Phenotypes: Cystinuria, 220100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | SLC6A3 | Catherine Snow edited their review of gene: SLC6A3: Changed publications: 21112253; Changed phenotypes: Parkinsonism-dystonia, infantile, 1, 613135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | SLC6A3 | Catherine Snow reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | RNASET2 | Ivone Leong reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | RBP4 | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. RBP4 is associated with retinoid metabolism on OMIM, but not on Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.382 | SLC6A8 |
Catherine Snow changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Comment on list classification: Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Promoted from Amber to Green. SLC6A8 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status. |
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Likely inborn error of metabolism - targeted testing not possible v1.381 | SLC6A8 | Catherine Snow reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21660517; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.380 | SLC7A9 | Catherine Snow Publications for gene: SLC7A9 were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.379 | SLC7A9 | Catherine Snow reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 12239244; Phenotypes: Cystinuria, 220100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.379 | UQCRC2 | Catherine Snow Added comment: Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.378 | UQCRC2 | Catherine Snow Publications for gene: UQCRC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.377 | NNT | Catherine Snow Publications for gene: NNT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.376 | NNT | Catherine Snow reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | TRAP1 | Catherine Snow reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: VACTERL, CAKUT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | OGDH | Catherine Snow reviewed gene: OGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-ketoglutarate dehydrogenase deficiency, 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | NDUFA13 | Catherine Snow reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.373 | NDUFA13 | Catherine Snow Publications for gene: NDUFA13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.372 | MRPS7 | Catherine Snow reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.372 | MRPS23 | Catherine Snow reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.370 | LYRM4 | Catherine Snow Publications for gene: LYRM4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.368 | LARS | Catherine Snow Publications for gene: LARS were set to 28774368; 30349989; 22607940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.367 | LARS | Catherine Snow Publications for gene: LARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.366 | LARS | Catherine Snow reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774368, 30349989, 22607940; Phenotypes: ?Infantile liver failure syndrome 1, 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.365 | TTC37 | Catherine Snow Publications for gene: TTC37 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.364 | TTC37 | Catherine Snow reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 25976726, 28292286, 31132033; Phenotypes: Trichohepatoenteric syndrome 1, 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.364 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.364 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308; 21907012; 23252400; 31584066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.363 | ST3GAL3 | Catherine Snow Publications for gene: ST3GAL3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.362 | ST3GAL3 | Catherine Snow reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907012, 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15, 615006: Mental retardation, autosomal recessive 12, 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.362 | WFS1 | Catherine Snow Publications for gene: WFS1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.360 | WFS1 | Catherine Snow reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30171196; Phenotypes: Wolfram syndrome 1, 222300, Wolfram-like syndrome, autosomal dominant, 614296, Diabetes mellitus, noninsulin-dependent, association with, 125853; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.359 | VKORC1 | Catherine Snow reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473, Warfarin resistance, 122700; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.359 | VIPAS39 | Catherine Snow Publications for gene: VIPAS39 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.357 | VIPAS39 | Catherine Snow reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 22753090, 26808426; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.356 | VPS33B | Catherine Snow Publications for gene: VPS33B were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.355 | VPS33B | Catherine Snow reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.355 | UROC1 | Catherine Snow Publications for gene: UROC1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.354 | UROC1 | Catherine Snow reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19304569, 30619714; Phenotypes: ?Urocanase deficiency, 276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.354 | UMOD | Catherine Snow Publications for gene: UMOD were set to 27604308; 31422399; 29180396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.354 | UMOD | Catherine Snow Publications for gene: UMOD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.353 | UMOD | Catherine Snow reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31422399, 29180396; Phenotypes: Hyperuricemic nephropathy, familial juvenile 1, 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.353 | TUFM | Catherine Snow reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.352 | TTPA | Catherine Snow Publications for gene: TTPA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.351 | TTPA | Catherine Snow reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26981194; Phenotypes: Ataxia with isolated vitamin E deficiency, 277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.351 | TREX1 | Catherine Snow Phenotypes for gene: TREX1 were changed from Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.350 | TREX1 | Catherine Snow Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.349 | TREX1 | Catherine Snow Publications for gene: TREX1 were set to 27604308; 12624136; 25604658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.349 | TREX1 | Catherine Snow Publications for gene: TREX1 were set to 27604308; 12624136; 25604658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.349 | TREX1 | Catherine Snow Publications for gene: TREX1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.348 | TREX1 | Catherine Snow reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12624136, 25604658; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.348 | TH | Catherine Snow Publications for gene: TH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.346 | TH | Catherine Snow reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753243; Phenotypes: Segawa syndrome, recessive, 605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.346 | TCN2 | Catherine Snow Added comment: Comment on publications: There are >3 unrelated cases reported in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.346 | TCN2 | Catherine Snow Publications for gene: TCN2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.345 | TCN2 | Catherine Snow reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259; Phenotypes: Transcobalamin II deficiency, 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.345 | TAT |
Catherine Snow Added comment: Comment on publications: PMID: 28255985 Reports on 106 families, represented by 143 individuals, carrying a total of 36 genetic variants. Variants include large deletions, non‐synonymous and nonsense amino‐acid changes, frameshifts and splice variants. |
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Likely inborn error of metabolism - targeted testing not possible v1.345 | TAT | Catherine Snow Publications for gene: TAT were set to 27604308; 28255985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.344 | TAT | Catherine Snow Publications for gene: TAT were set to 27604308; 28255985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.344 | TAT | Catherine Snow Publications for gene: TAT were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.342 | TAT | Catherine Snow reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.342 | STS | Catherine Snow Publications for gene: STS were set to 27604308; 1539590; 29672931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.341 | STS | Catherine Snow Publications for gene: STS were set to 27604308; 1539590; 29672931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.341 | STS | Catherine Snow Publications for gene: STS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.339 | STS | Catherine Snow reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: None; Publications: 1539590, 29672931; Phenotypes: Ichthyosis, X-linked, 308100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.337 | ISCA2 | Sarah Leigh Publications for gene: ISCA2 were set to 25539947; 29359243; 29122497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.336 | ISCA2 |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two different ethinicities. Rated green based on review of Anna de Burca (Clinical Fellow, Genomic England). |
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Likely inborn error of metabolism - targeted testing not possible v1.334 | ISCA2 | Sarah Leigh Publications for gene: ISCA2 were set to PMID: 25539947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.333 | DNM2 | Sarah Leigh Publications for gene: DNM2 were set to 18560793; 17932957; 17636067; 17008356; 16227997; 15731758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.331 | SLC2A1 |
Ivone Leong Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Promoted from Amber to Green. SLC2A1 is associated with GLUT1 deficiency syndrome 1 and GLUT1 deficiency syndrome 2 on OMIM and Gene2Phenotype. There are >3 unrelated cases reported on OMIM. Therefore, there is enough evidence for this gene to be promoted to Green status. |
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Likely inborn error of metabolism - targeted testing not possible v1.329 | HSPA9 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.328 | FDX2 | Sarah Leigh Added comment: Comment on list classification: Based on reviews from Carl Fratter and Zornitza Stark. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.326 | FDX2 | Sarah Leigh Publications for gene: FDX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.324 | DNM2 | Sarah Leigh Publications for gene: DNM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A |
Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. No further variants reported to date (30/09/2019).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. The proband died from cardiorespiratory failure associated with infection and metabolic crisis at 12.5 years. No further variants reported to date (30/09/2019). |
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Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. No further variants reported to date (30/09/2019). |
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Likely inborn error of metabolism - targeted testing not possible v1.321 | COQ7 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.319 | COQ7 | Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.317 | CEP89 | Sarah Leigh reviewed gene: CEP89: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.317 | MT-CO3 | Louise Daugherty Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.315 | TMEM126A | Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with the phenotype Optic atrophy 7 612989 in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases. The red rating is based on Helen Britain's opinion that, the phenotype of Optic atrophy 7 612989 will not present via a metabolic team. TMEM126A is green on the Optic neuropathy panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.314 | TMEM126A | Sarah Leigh Publications for gene: TMEM126A were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.313 | PDK3 |
Sarah Leigh 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. |
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Likely inborn error of metabolism - targeted testing not possible v1.311 | PDK1 |
Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned. |
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Likely inborn error of metabolism - targeted testing not possible v1.311 | NDUFA12 |
Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.311 | MRPS16 |
Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.311 | COX4I2 |
Sarah Leigh changed review comment from: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081). |
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Likely inborn error of metabolism - targeted testing not possible v1.311 | COA5 | Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and as a possible G2P. At least 1 variant reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.311 | COA5 | Sarah Leigh changed review comment from: Comment on list classification: No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.311 | ATP5E | Sarah Leigh changed review comment from: Comment on list classification: Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.311 | ATP5A1 | Sarah Leigh changed review comment from: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys mentioned in this article have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.311 | PDK3 | Sarah Leigh Publications for gene: PDK3 were set to 27604308; 26801680; 28902413 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.310 | PDK3 | Sarah Leigh Publications for gene: PDK3 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.308 | PDK1 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.307 | NDUFA12 | Sarah Leigh Publications for gene: NDUFA12 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.305 | NDUFA12 | Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.305 | NDUFA12 | Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.304 | MRPS16 | Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.302 | MRPS16 | Sarah Leigh Publications for gene: MRPS16 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.300 | COX4I2 | Sarah Leigh Publications for gene: COX4I2 were set to 27604308; 19268275; 22592081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.299 | COX4I2 |
Sarah Leigh 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). |
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Likely inborn error of metabolism - targeted testing not possible v1.298 | COX4I2 | Sarah Leigh Publications for gene: COX4I2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.295 | COA5 | Sarah Leigh Publications for gene: COA5 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.294 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.292 | ATP5E | Sarah Leigh Added comment: Comment on publications: pmid 27626380: knockout of the mouse homolog of human ATP5E is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.292 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.291 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to 20566710; 27626380; 25954304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.290 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to 20566710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.289 | ATP5E | Sarah Leigh Added comment: Comment on list classification: Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.288 | ATP5E | Sarah Leigh Publications for gene: ATP5E were set to PMID: 20566710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.287 | STAT2 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that the majority of cases will be presenting in the context of overwhelming infection. The raised lactate and encephalomyopathy are potentially relevant phenotypes for this panel, however more evidence is needed on how common this presentation is, and whether it is always clearly associated with a proven infection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.286 | SPTLC1 |
Catherine Snow changed review comment from: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association. SPTLC1, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites. Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications.; to: Promoted from Amber to Green. This gene is associated with a relevant disease in OMIM and there is enough evidence to support a gene-disease association. SPTLC1, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID 20097765 reports that mutations in SPTLC1 cause a gain of function mechanism, which results in the formation of two atypical and neurotoxic sphingolipid metabolites. Confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/) and in sufficient publications. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.285 | SPTLC1 | Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.285 | SPTLC1 | Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.284 | SPTLC1 | Catherine Snow Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.284 | SPTLC1 | Catherine Snow Publications for gene: SPTLC1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.283 | SPTLC1 | Catherine Snow reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20097765, 21618344, 20097765, 30420926; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.282 | SPTLC2 | Catherine Snow Publications for gene: SPTLC2 were set to 27604308; 20920666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.282 | SPTLC2 | Catherine Snow Publications for gene: SPTLC2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.281 | SPTLC2 |
Catherine Snow changed review comment from: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. SPTLC2, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID: 20920666 reports on three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families and also confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/). This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. SPTLC2, encodes one of the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids. PMID: 20920666 reports on three heterozygous missense mutations in the SPTLC2 subunit of SPT in four families and also confirmed cases in Bristol (see review on Hereditary Neuropathy panel https://panelapp.genomicsengland.co.uk/panels/85/). This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.281 | SPTLC2 | Catherine Snow reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920666; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.281 | SPR | Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.281 | SPR | Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.281 | SPR | Catherine Snow Publications for gene: SPR were set to 27604308; 22018912; 22522443; 22018912; 24588500; 28189489; 21431957; 16650784 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.280 | SPR | Catherine Snow Publications for gene: SPR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.279 | SPR | Catherine Snow reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22018912, 22522443, 22018912, 24588500, 28189489, 21431957, 16650784; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.278 | IER3IP1 | Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions. Thus in the opinion of Helen Britain (Genomics England Clinical Fellow) the phenotypes reported could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.278 | IER3IP1 | Sarah Leigh changed review comment from: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.; to: Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions, thus in the opinion of Helen Britain the phenotypes reported, the condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.278 | SLC2A1 | Ivone Leong Phenotypes for gene: SLC2A1 were changed from Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies to Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.277 | SDHC | Ivone Leong reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.277 | SC5D |
Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.276 | SC5D | Ivone Leong Added comment: Comment on publications: There are >3 unrelated cases and an animal model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.276 | SC5D | Ivone Leong Publications for gene: SC5D were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.275 | SC5D | Ivone Leong Phenotypes for gene: SC5D were changed from Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts to Lathosterolosis, 607330; Intellectual disability; Cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.274 | RNASEH2C |
Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2C is associated with Aicardi-Goutieres syndrome 3 on OMIM and Gene2Phenotype. There are 2 unrelated cases from the same geographical region on OMIM about RNASEH2C causing Aicardi-Goutieres syndrome; however, RNASEH2C does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.273 | RNASEH2B |
Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.; to: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM about RNASEH2B causing Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.273 | RNASEH2B |
Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red. This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. |
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Likely inborn error of metabolism - targeted testing not possible v1.269 | PEX5 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.268 | GTPBP3 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.268 | DPM2 | Sarah Leigh Added comment: Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.268 | DCXR | Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.267 | CYP7B1 | Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels. |
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Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh changed review comment from: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.; to: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh Added comment: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.264 | PTS | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. PTS is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.262 | PSPH | Ivone Leong reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 9222972, 25080166; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ALDH3A2 | Sarah Leigh reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 10792573, 10577908; Phenotypes: Sjogren-Larsson syndrome 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ALAS2 | Sarah Leigh edited their review of gene: ALAS2: Added comment: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.; Changed rating: GREEN; Changed publications: 27604308, 1570328, 7560104, 12663458, 18760763; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ADSL | Sarah Leigh reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 18830228, 12016589, 10090474; Phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ADA | Sarah Leigh reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 3684597, 2783588, 1680289; Phenotypes: Adenosine deaminase deficiency, partial 102700, Severe combined immunodeficiency due to ADA deficiency 102700, Combined B and T cell defect, SCID, Infantile enterocolitis & monogenic inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ACY1 | Sarah Leigh reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 24117009, 17562838, 16465618; Phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ABHD12 | Sarah Leigh reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 20797687, 24697911 ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674, Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ABCG8 | Sarah Leigh reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11452359, 15996216, 11099417, 22981120; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.254 | ABCG5 | Sarah Leigh reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11099417, 11138003, 20719861, 17976197; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.252 | PSAT1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038. At least 5 variants reported in 6 cases of Neu-Laxova syndrome 2 616038 and 2 variants in a case of ?Phosphoserine aminotransferase deficiency 610992. |
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Likely inborn error of metabolism - targeted testing not possible v1.251 | PSAT1 | Sarah Leigh Publications for gene: PSAT1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.248 | PRPS1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500 and Phosphoribosylpyrophosphate synthetase superactivity 300661. At least 22 variants have been reported across the phenotypes. |
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Likely inborn error of metabolism - targeted testing not possible v1.246 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.245 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.245 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.244 | GATC | Sarah Leigh Publications for gene: GATC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.243 | ATP5A1 | Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.242 | POR | Sarah Leigh Publications for gene: POR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.241 | POR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and 6 variants associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571. |
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Likely inborn error of metabolism - targeted testing not possible v1.240 | PITRM1 | Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.238 | PNP | Sarah Leigh Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.238 | PNP | Sarah Leigh Publications for gene: PNP were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.237 | PNP |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.237 | PNP |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.235 | PINK1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.234 | PINK1 | Sarah Leigh Added comment: Comment on publications: Many more publications | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.234 | PINK1 | Sarah Leigh Publications for gene: PINK1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.232 | PIGM |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775). |
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Likely inborn error of metabolism - targeted testing not possible v1.231 | PIGM |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775). |
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Likely inborn error of metabolism - targeted testing not possible v1.231 | PIGM |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775). |
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Likely inborn error of metabolism - targeted testing not possible v1.230 | PIGM | Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.230 | PIGM | Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906; 25293775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.229 | PIGM | Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.227 | PHGDH | Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.226 | PHGDH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both phenotypes. At least 6 variants reported in 6 unrelated cases of Phosphoglycerate dehydrogenase deficiency 601815 and 4 variants reported in 4 unrelated cases of Neu-Laxova syndrome 1 256520. |
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Likely inborn error of metabolism - targeted testing not possible v1.224 | PEPD | Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.223 | PEPD | Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.223 | PEPD | Sarah Leigh Publications for gene: PEPD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.222 | PEPD |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.222 | PEPD |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.220 | PDPR |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065. |
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Likely inborn error of metabolism - targeted testing not possible v1.219 | PDPR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065. |
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Likely inborn error of metabolism - targeted testing not possible v1.217 | PDPR | Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.216 | PDPR | Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776. |
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Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.211 | PCK1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.209 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.208 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.208 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.207 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.206 | PANK2 | Sarah Leigh Publications for gene: PANK2 were set to 27604308; 11479594; 12510040; 12058097; 14638969; 16240131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.206 | PANK2 | Sarah Leigh Publications for gene: PANK2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.205 | PANK2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236. |
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Likely inborn error of metabolism - targeted testing not possible v1.205 | PANK2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236. |
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Likely inborn error of metabolism - targeted testing not possible v1.202 | OPLAH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion. |
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Likely inborn error of metabolism - targeted testing not possible v1.201 | OPLAH | Sarah Leigh Publications for gene: OPLAH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.200 | OCRL |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000. |
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Likely inborn error of metabolism - targeted testing not possible v1.200 | OCRL |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000. |
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Likely inborn error of metabolism - targeted testing not possible v1.199 | OCRL | Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;Cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.199 | OCRL | Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;Cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.199 | OCRL | Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Dent disease 2 300555; Lowe syndrome 309000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.198 | OCRL | Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.197 | OCRL | Sarah Leigh Publications for gene: OCRL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.196 | OCRL | Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.195 | NDUFB9 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported, together with supportive functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.193 | NDUFB9 | Sarah Leigh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.193 | NDUFB9 | Sarah Leigh Publications for gene: NDUFB9 were set to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.191 | MVK | Sarah Leigh Publications for gene: MVK were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.190 | MVK | Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.187 | MTFMT | Sarah Leigh Publications for gene: MTFMT were set to 21907147; 27564080; 23499752; 24461907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.184 | MOCS2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.183 | MOCS2 | Sarah Leigh Publications for gene: MOCS2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.181 | MOCS1 | Sarah Leigh Publications for gene: MOCS1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.180 | MOCS1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.177 | MAOA | Sarah Leigh Publications for gene: MAOA were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.176 | MAOA |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.176 | MAOA |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.175 | MAGT1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases, together with mouse knock-out model (PMID 29581357). |
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Likely inborn error of metabolism - targeted testing not possible v1.174 | MAGT1 | Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357; 25956530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.173 | MAGT1 | Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.172 | MAGT1 | Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.170 | LIPC | Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC | Sarah Leigh Publications for gene: LIPC were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC |
Sarah Leigh 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. |
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Likely inborn error of metabolism - targeted testing not possible v1.167 | LDLRAP1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.166 | LDLRAP1 | Sarah Leigh Publications for gene: LDLRAP1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.164 | LDLR | Sarah Leigh Publications for gene: LDLR were set to 27604308; 27821657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.163 | LDLR | Sarah Leigh Publications for gene: LDLR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.162 | LDLR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.160 | LBR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471. |
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Likely inborn error of metabolism - targeted testing not possible v1.159 | LBR | Sarah Leigh Publications for gene: LBR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.157 | ISCU | Sarah Leigh Publications for gene: ISCU were set to 18304497; 29079705; 18296749; 19567699; 20206689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.156 | HSD17B10 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for mental retardation syndromic X-linked type 10 . At least 8 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.155 | HSD17B10 | Sarah Leigh Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.152 | HPS1 | Sarah Leigh Publications for gene: HPS1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.151 | HPS1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.150 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.150 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.149 | HPD |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for both phenotypes. At least 4 variants reported in unrelated cases of Tyrosinemia, type III 276710 and 4 variants in 6 unrelated cases of Hawkinsinuria 140350 (at least 2 of these cases were compound heterozygotes). |
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Likely inborn error of metabolism - targeted testing not possible v1.148 | HPD | Sarah Leigh Publications for gene: HPD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.146 | HADH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975. |
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Likely inborn error of metabolism - targeted testing not possible v1.145 | HADH | Sarah Leigh Publications for gene: HADH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.143 | GNMT |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data. |
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Likely inborn error of metabolism - targeted testing not possible v1.142 | GNMT |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data. |
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Likely inborn error of metabolism - targeted testing not possible v1.142 | GNMT |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data. |
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Likely inborn error of metabolism - targeted testing not possible v1.141 | GNMT | Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.140 | GLUL |
Sarah Leigh 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. |
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Likely inborn error of metabolism - targeted testing not possible v1.139 | GLUL | Sarah Leigh Publications for gene: GLUL were set to 27604308; 16267323; 21353613 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.139 | GLUL | Sarah Leigh Publications for gene: GLUL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.136 | GK | Sarah Leigh Publications for gene: GK were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.135 | GK |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.131 | GAMT |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.130 | GAMT | Sarah Leigh Publications for gene: GAMT were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.128 | FTCD |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 15 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.127 | FTCD | Sarah Leigh Publications for gene: FTCD were set to 27604308; 12815595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.126 | FTCD | Sarah Leigh Publications for gene: FTCD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.124 | FGFR2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with 14 phenotypes in OMIM and as confirmed Gen2Phen gene for acrocephalosyndactyly type V, Antley-Bixler syndrome, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, familial scaphocephaly syndrome, Jackson-Weiss syndrome, lacrimo-auriculo-dento-digital syndrome. At least 44 variants reported. |
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Likely inborn error of metabolism - targeted testing not possible v1.120 | FECH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.118 | DPM3 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.117 | DPM3 | Sarah Leigh Publications for gene: DPM3 were set to 19576565; 28803818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.117 | DPM3 | Sarah Leigh Publications for gene: DPM3 were set to 19576565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.115 | DHDDS |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Retinitis pigmentosa 59 613861. One variant was reported in at least 15 families with retinitis pigmentosa, but only one compound individual with glycosylation defects was identifed so far (PMID 27343064). |
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Likely inborn error of metabolism - targeted testing not possible v1.113 | DHODH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380). |
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Likely inborn error of metabolism - targeted testing not possible v1.112 | DHODH | Sarah Leigh Publications for gene: DHODH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.109 | DHCR24 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented. |
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Likely inborn error of metabolism - targeted testing not possible v1.109 | DHCR24 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented. |
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Likely inborn error of metabolism - targeted testing not possible v1.108 | DHCR24 | Sarah Leigh Publications for gene: DHCR24 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.106 | DCXR | Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.105 | DCXR | Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873; 23988570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.105 | DCXR | Sarah Leigh Publications for gene: DCXR were set to 27604308; 22042873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.104 | DCXR |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein. |
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Likely inborn error of metabolism - targeted testing not possible v1.102 | DCXR | Sarah Leigh Publications for gene: DCXR were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.101 | CYP7B1 |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812. |
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Likely inborn error of metabolism - targeted testing not possible v1.101 | CYP7B1 | Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.100 | CYP7B1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812. |
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Likely inborn error of metabolism - targeted testing not possible v1.98 | CTSC |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000. |
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Likely inborn error of metabolism - targeted testing not possible v1.97 | CTSC | Sarah Leigh Added comment: Comment on phenotypes: Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.97 | CTSC | Sarah Leigh Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.95 | CLDN19 | Sarah Leigh Added comment: Comment on phenotypes: Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.95 | CLDN19 | Sarah Leigh Phenotypes for gene: CLDN19 were changed from Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 5, renal, with ocular involvement 248190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.95 | CLDN19 | Sarah Leigh Publications for gene: CLDN19 were set to 27604308; 22422540; 17033971 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.94 | CLDN19 | Sarah Leigh Publications for gene: CLDN19 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.93 | CLDN19 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 6 unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.92 | CLDN16 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.91 | CLDN16 | Sarah Leigh Added comment: Comment on phenotypes: Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.91 | CLDN16 | Sarah Leigh Phenotypes for gene: CLDN16 were changed from Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) to Hypomagnesemia 3, renal 248250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.90 | CISD2 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases, together with segration and functional studies. |
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Likely inborn error of metabolism - targeted testing not possible v1.89 | CISD2 | Sarah Leigh Publications for gene: CISD2 were set to 27604308; 17846994; 25056293; 25371195; 29237418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.89 | CISD2 | Sarah Leigh Publications for gene: CISD2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.87 | ASAH1 | Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.87 | APOB |
Sarah Leigh changed review comment from: Comment on list classification: At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases. |
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Likely inborn error of metabolism - targeted testing not possible v1.87 | APOB | Sarah Leigh Added comment: Comment on list classification: At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.85 | ALPL |
Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997). |
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Likely inborn error of metabolism - targeted testing not possible v1.85 | ALG13 |
Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991). |
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Likely inborn error of metabolism - targeted testing not possible v1.85 | ALPL | Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.84 | ALPL | Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.84 | ALPL | Sarah Leigh Publications for gene: ALPL were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.83 | ALPL | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.81 | ALG13 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.76 | WARS2 |
Sarah Leigh Source Expert Review Green was added to WARS2. Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2 Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | UQCRB |
Sarah Leigh Source Expert Review Green was added to UQCRB. Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TUFM |
Sarah Leigh Source Expert Review Green was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TRMT5 |
Sarah Leigh Source Expert Review Green was added to TRMT5. Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5 Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TRMT10C |
Sarah Leigh Source Expert Review Green was added to TRMT10C. Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C Publications for gene TRMT10C were changed from to 27132592 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TRIT1 |
Sarah Leigh Source Expert Review Green was added to TRIT1. Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1 Publications for gene TRIT1 were changed from to 24901367; 28185376 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TOP3A |
Sarah Leigh gene: TOP3A was added gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | TMEM126B |
Sarah Leigh Source Expert Review Green was added to TMEM126B. Added phenotypes Isolated complex I deficiency for gene: TMEM126B Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | SLC25A42 |
Sarah Leigh Source Expert Review Green was added to SLC25A42. Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42 Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | SLC25A12 |
Sarah Leigh Source Expert Review Green was added to SLC25A12. Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12 Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | SFXN4 |
Sarah Leigh Source Expert Review Green was added to SFXN4. Mode of inheritance for gene SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4 Publications for gene SFXN4 were changed from to 24119684 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | RTN4IP1 |
Sarah Leigh Source Expert Review Green was added to RTN4IP1. Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1 Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | QRSL1 |
Sarah Leigh Source Expert Review Green was added to QRSL1. Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1 Publications for gene QRSL1 were changed from to 29440775; 26741492 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | PNPLA8 |
Sarah Leigh Source Expert Review Green was added to PNPLA8. Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8 Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | PMPCB |
Sarah Leigh gene: PMPCB was added gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | PITRM1 |
Sarah Leigh Source Expert Review Green was added to PITRM1. Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1 Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | PARS2 |
Sarah Leigh Source Expert Review Green was added to PARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2 Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFB8 |
Sarah Leigh Source Expert Review Green was added to NDUFB8. Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8 Publications for gene NDUFB8 were changed from to 27290639; 29429571 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFAF8 |
Sarah Leigh gene: NDUFAF8 was added gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFA9 |
Sarah Leigh Source Expert Review Green was added to NDUFA9. Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9 Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFA6 |
Sarah Leigh Source Expert Review Green was added to NDUFA6. Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6 Publications for gene NDUFA6 were changed from to 30245030 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NDUFA4 |
Sarah Leigh Source Expert Review Green was added to NDUFA4. Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4 Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NAXE |
Sarah Leigh Source Expert Review Green was added to NAXE. Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE Publications for gene NAXE were changed from to 27616477; 27290639; 27122014 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | NADK2 |
Sarah Leigh Source Expert Review Green was added to NADK2. Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2 Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MTPAP |
Sarah Leigh Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MTFMT |
Sarah Leigh Source Expert Review Green was added to MTFMT. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MRPS2 |
Sarah Leigh Source Expert Review Green was added to MRPS2. Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2 Publications for gene MRPS2 were changed from to 29576219 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MRPL3 |
Sarah Leigh Source Expert Review Green was added to MRPL3. Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MPC1 |
Sarah Leigh Source Expert Review Green was added to MPC1. Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1 Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MIPEP |
Sarah Leigh gene: MIPEP was added gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064 Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MICU1 |
Sarah Leigh Source Expert Review Green was added to MICU1. Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1 Publications for gene MICU1 were changed from to 24336167; 29721912 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MECR |
Sarah Leigh Source Expert Review Green was added to MECR. Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR Publications for gene MECR were changed from to 27817865 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | LYRM7 |
Sarah Leigh Source Expert Review Green was added to LYRM7. Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7 Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | LIPT2 |
Sarah Leigh Source Expert Review Green was added to LIPT2. Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2 Publications for gene LIPT2 were changed from to 28803783; 28757203 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | ISCU |
Sarah Leigh Source Expert Review Green was added to ISCU. Mode of inheritance for gene ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU Publications for gene ISCU were changed from 27604308 to 18304497; 29079705; 18296749; 19567699; 20206689 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | ISCA1 |
Sarah Leigh gene: ISCA1 was added gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | HSD17B10 |
Sarah Leigh Source Expert Review Green was added to HSD17B10. Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10 Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | HARS2 |
Sarah Leigh Source Expert Review Green was added to HARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2 Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | GFM2 |
Sarah Leigh Source Expert Review Green was added to GFM2. Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2 Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | COA7 |
Sarah Leigh gene: COA7 was added gene: COA7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | CARS2 |
Sarah Leigh Source Expert Review Green was added to CARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2 Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | C19orf70 |
Sarah Leigh gene: C19orf70 was added gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409 Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | ATP5D |
Sarah Leigh gene: ATP5D was added gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120 |
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Likely inborn error of metabolism - targeted testing not possible v1.75 | STAT2 | Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.73 | ROBO3 | Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.72 | FXN |
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases. FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions. |
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Likely inborn error of metabolism - targeted testing not possible v1.71 | RANBP2 | Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.70 | PGAM2 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.69 | PGAM2 | Sarah Leigh Publications for gene: PGAM2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.66 | MANBA | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in 6 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.64 | ASAH1 | Sarah Leigh Publications for gene: ASAH1 were set to 27604308; 29169047; 22703880; 24164096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.63 | ASAH1 | Sarah Leigh Publications for gene: ASAH1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.62 | ASAH1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.62 | ASAH1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 |
Sarah Leigh changed review comment from: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.; to: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported. Although single gene testing has been commissioned for DHCR7, it is well established as an inherited metabolic disorder and ought to be included in the overall panel in case it has not been biochemically excluded initially Saikat Santra (Birmingham Children's Hospital), 21 Dec 2018 |
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Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.56 | UQCRQ | Sarah Leigh Publications for gene: UQCRQ were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.55 | UQCRQ | Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.54 | NDUFA1 | Ellen McDonagh Publications for gene: NDUFA1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.52 | MRPL44 | Ellen McDonagh Publications for gene: MRPL44 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.50 | MRPL44 | Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.49 | SLC35A1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following promotion of SLC35A1 to Green on the component panel 'Congenital disorders of glycosylation'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.48 | SLC35A1 | Rebecca Foulger Publications for gene: SLC35A1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | LCAT |
Ivone Leong Source NHS GMS was added to LCAT. Source London North GLH was added to LCAT. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | CAT |
Ivone Leong Source NHS GMS was added to CAT. Source London North GLH was added to CAT. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | BCAT2 |
Ivone Leong Source NHS GMS was added to BCAT2. Source London North GLH was added to BCAT2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | BCAT1 |
Ivone Leong Source NHS GMS was added to BCAT1. Source London North GLH was added to BCAT1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | ACAT1 |
Ivone Leong Source NHS GMS was added to ACAT1. Source London North GLH was added to ACAT1. |
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Likely inborn error of metabolism - targeted testing not possible v1.18 | GALK1 | Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.19 | TIMM50 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.18 | TIMM50 |
Sarah Leigh gene: TIMM50 was added gene: TIMM50 was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM50 were set to 27573165 Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX 617698 Review for gene: TIMM50 was set to AMBER Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract. (Three unrelated families reported with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 1 Sep 2018) Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.17 | MRPS34 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.16 | MRPS34 |
Sarah Leigh gene: MRPS34 was added gene: MRPS34 was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS34 were set to 28777931 Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32 617664 Review for gene: MRPS34 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases. (Six individuals from four unrelated families reported in the literature with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 30 Aug 2018) Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.14 | FDXR |
Sarah Leigh gene: FDXR was added gene: FDXR was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy 617717 Review for gene: FDXR was set to GREEN Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. Sources: Expert Review, Literature |
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Likely inborn error of metabolism - targeted testing not possible v0.12 | C1QBP |
Sarah Leigh gene: C1QBP was added gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33 617713 Review for gene: C1QBP was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases. Sources: Literature, Expert Review |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA-37440-Loss |
Ellen McDonagh Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAP1 |
Ellen McDonagh gene: TRAP1 was added gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAP1 was set to Unknown Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA4 |
Ellen McDonagh gene: NDUFA4 was added gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA4 was set to Unknown Publications for gene: NDUFA4 were set to PMID: 23746447 Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | WDR45 |
Ellen McDonagh gene: WDR45 was added gene: WDR45 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: WDR45 were set to 27604308 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STS |
Ellen McDonagh gene: STS was added gene: STS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STS were set to 27604308 Phenotypes for gene: STS were set to X-linked ichthyosis (Other disorders in the metabolism of sterols); Autosomal recessive congenital ichthyosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A2 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2 Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A2 |
Ellen McDonagh gene: SLC35A2 was added gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to 27604308 Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRPS1 |
Ellen McDonagh gene: PRPS1 was added gene: PRPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to 27604308 Phenotypes for gene: PRPS1 were set to Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK3 |
Ellen McDonagh Added phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK3 Publications for gene PDK3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHA1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1 Publications for gene PDHA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OTC |
Ellen McDonagh gene: OTC was added gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 27604308 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NSDHL |
Ellen McDonagh gene: NSDHL was added gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NSDHL were set to 27604308 Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LAMP2 |
Ellen McDonagh gene: LAMP2 was added gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27604308 Phenotypes for gene: LAMP2 were set to Danon disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B10 |
Ellen McDonagh gene: HSD17B10 was added gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HSD17B10 were set to 27604308 Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HCCS |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS Publications for gene HCCS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLA |
Ellen McDonagh gene: GLA was added gene: GLA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 27604308 Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry Disease; Fabry disease (Sphingolipidoses); Fabry disease, 301500 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GK |
Ellen McDonagh gene: GK was added gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GK were set to 27604308 Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EBP |
Ellen McDonagh gene: EBP was added gene: EBP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 27604308 Phenotypes for gene: EBP were set to MEND syndrome 300960 XLR; Chondrodysplasia punctata, X-linked dominant 302960 XLD; X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX7B |
Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS for gene: COX7B Publications for gene COX7B were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13 Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh gene: ALG13 was added gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 27604308 Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALAS2 |
Ellen McDonagh gene: ALAS2 was added gene: ALAS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALAS2 were set to 27604308 Phenotypes for gene: ALAS2 were set to Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCD1 |
Ellen McDonagh gene: ABCD1 was added gene: ABCD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCD1 were set to 27604308 Phenotypes for gene: ABCD1 were set to X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation); Adrenoleukodystrophy 300100 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7 Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh gene: ABCB7 was added gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ABCB7 were set to PMID: 26242992; 17192398; 22398176 Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TIMM8A |
Ellen McDonagh Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A Publications for gene TIMM8A were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TAZ |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Disorders of mitochondrial lipid metabolism for gene: TAZ Publications for gene TAZ were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SSR4 |
Ellen McDonagh gene: SSR4 was added gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 26264460 Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A8 |
Ellen McDonagh gene: SLC6A8 was added gene: SLC6A8 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308 Phenotypes for gene: SLC6A8 were set to Intellectual disability; Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RPL10 |
Ellen McDonagh gene: RPL10 was added gene: RPL10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGA |
Ellen McDonagh Added phenotypes PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 for gene: PIGA Publications for gene PIGA were changed from 25885527 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGA |
Ellen McDonagh gene: PIGA was added gene: PIGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 25885527 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA2 |
Ellen McDonagh gene: PHKA2 was added gene: PHKA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA2 were set to 27604308 Phenotypes for gene: PHKA2 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease, type IXa2, 306000; Glycogen storage disease, type IXa1, 306000; hepatomegaly and mild hypoglycaemia; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA1 |
Ellen McDonagh gene: PHKA1 was added gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGK1 |
Ellen McDonagh gene: PGK1 was added gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 27604308 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OCRL |
Ellen McDonagh gene: OCRL was added gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 27604308 Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAOA |
Ellen McDonagh gene: MAOA was added gene: MAOA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAOA were set to 27604308 Phenotypes for gene: MAOA were set to Brunner syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAGT1 |
Ellen McDonagh Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) for gene: MAGT1 Publications for gene MAGT1 were changed from 27604308 to 27604308; 27393411 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAGT1 |
Ellen McDonagh gene: MAGT1 was added gene: MAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 27604308 Phenotypes for gene: MAGT1 were set to Combined B and T cell defect; IAP-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDS |
Ellen McDonagh gene: IDS was added gene: IDS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 27604308 Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2; MPS II, Hunter disease (Mucopolysaccharidoses); Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPRT1 |
Ellen McDonagh gene: HPRT1 was added gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 27604308 Phenotypes for gene: HPRT1 were set to HPRT-related gout |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6AP1 |
Ellen McDonagh Added phenotypes Immunodeficiency 47 for gene: ATP6AP1 Publications for gene ATP6AP1 were changed from to 27231034 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1 Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AIFM1 |
Ellen McDonagh gene: AIFM1 was added gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327 Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | USF1 |
Ellen McDonagh gene: USF1 was added gene: USF1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: USF1 was set to Unknown Publications for gene: USF1 were set to 27604308 Phenotypes for gene: USF1 were set to Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TREH |
Ellen McDonagh gene: TREH was added gene: TREH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TREH was set to Unknown Publications for gene: TREH were set to 27604308 Phenotypes for gene: TREH were set to Trehalase deficiency (Other carbohydrate disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TDO2 |
Ellen McDonagh gene: TDO2 was added gene: TDO2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TDO2 was set to Unknown Publications for gene: TDO2 were set to 27604308 Phenotypes for gene: TDO2 were set to No OMIM number; Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TARS2 |
Ellen McDonagh gene: TARS2 was added gene: TARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TARS2 was set to Unknown Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither. Phenotypes for gene: TARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG2 |
Ellen McDonagh gene: SUCLG2 was added gene: SUCLG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SUCLG2 was set to Unknown Publications for gene: SUCLG2 were set to 27604308 Phenotypes for gene: SUCLG2 were set to Succinyl-CoA synthetase deficiency (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A2 |
Ellen McDonagh gene: SLC25A2 was added gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A2 was set to Unknown Publications for gene: SLC25A2 were set to 27604308 Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC22A4 |
Ellen McDonagh gene: SLC22A4 was added gene: SLC22A4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC22A4 was set to Unknown Publications for gene: SLC22A4 were set to 24816252 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PTPRZ1 |
Ellen McDonagh gene: PTPRZ1 was added gene: PTPRZ1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PTPRZ1 was set to Unknown Publications for gene: PTPRZ1 were set to 27604308 Phenotypes for gene: PTPRZ1 were set to Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); {H. pylori infection, susceptibility to} 600263 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX11A |
Ellen McDonagh gene: PEX11A was added gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PEX11A was set to Unknown Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773 Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDXK |
Ellen McDonagh gene: PDXK was added gene: PDXK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDXK was set to Unknown Publications for gene: PDXK were set to 27604308 Phenotypes for gene: PDXK were set to Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK4 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK4 Publications for gene PDK4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK2 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK2 Publications for gene PDK2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK1 Publications for gene PDK1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OGDH |
Ellen McDonagh gene: OGDH was added gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OGDH was set to Unknown Publications for gene: OGDH were set to 27604308 Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NT5C |
Ellen McDonagh gene: NT5C was added gene: NT5C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NT5C was set to Unknown Publications for gene: NT5C were set to 27604308 Phenotypes for gene: NT5C were set to Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HYKK |
Ellen McDonagh gene: HYKK was added gene: HYKK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HYKK was set to Unknown Publications for gene: HYKK were set to 27604308 Phenotypes for gene: HYKK were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLS |
Ellen McDonagh gene: GLS was added gene: GLS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GLS was set to Unknown Publications for gene: GLS were set to 27604308 Phenotypes for gene: GLS were set to Glucosidase 1 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GGT1 |
Ellen McDonagh gene: GGT1 was added gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GGT1 was set to Unknown Publications for gene: GGT1 were set to 27604308; 24816252 Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR3 |
Ellen McDonagh gene: FOLR3 was added gene: FOLR3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FOLR3 was set to Unknown Publications for gene: FOLR3 were set to 8110752 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR2 |
Ellen McDonagh gene: FOLR2 was added gene: FOLR2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FOLR2 was set to Unknown Publications for gene: FOLR2 were set to 14711912; 19587340 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPEP1 |
Ellen McDonagh gene: DPEP1 was added gene: DPEP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DPEP1 was set to Unknown Publications for gene: DPEP1 were set to 27604308 Phenotypes for gene: DPEP1 were set to Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DMGDH |
Ellen McDonagh gene: DMGDH was added gene: DMGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DMGDH was set to Unknown Publications for gene: DMGDH were set to 27604308; 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity; 11231903 - case study Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency 605850; Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLST |
Ellen McDonagh gene: DLST was added gene: DLST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DLST was set to Unknown Publications for gene: DLST were set to 27604308; 12805207; 1943690 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHFR2 |
Ellen McDonagh gene: DHFR2 was added gene: DHFR2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DHFR2 was set to Unknown Publications for gene: DHFR2 were set to 21876184 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CNDP1 |
Ellen McDonagh gene: CNDP1 was added gene: CNDP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CNDP1 was set to Unknown Publications for gene: CNDP1 were set to 27604308 Phenotypes for gene: CNDP1 were set to Carnosinaemia (Other disorders of peptide metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPS |
Ellen McDonagh gene: CLPS was added gene: CLPS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CLPS was set to Unknown Publications for gene: CLPS were set to 27604308 Phenotypes for gene: CLPS were set to Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CD320 |
Ellen McDonagh gene: CD320 was added gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CD320 was set to Unknown Publications for gene: CD320 were set to 27604308; 20524213 Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCAT2 |
Ellen McDonagh gene: BCAT2 was added gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT2 was set to Unknown Publications for gene: BCAT2 were set to 27604308 Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCAT1 |
Ellen McDonagh gene: BCAT1 was added gene: BCAT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT1 was set to Unknown Publications for gene: BCAT1 were set to 27604308 Phenotypes for gene: BCAT1 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5E |
Ellen McDonagh Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E Publications for gene ATP5E were changed from 27604308 to PMID: 20566710 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5E |
Ellen McDonagh gene: ATP5E was added gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5E was set to Unknown Publications for gene: ATP5E were set to 27604308 Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSG |
Ellen McDonagh gene: ARSG was added gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ARSG was set to Unknown Publications for gene: ARSG were set to 26975023; 20679209; 25452429 Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AOX1 |
Ellen McDonagh gene: AOX1 was added gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AOX1 was set to Unknown Publications for gene: AOX1 were set to 27604308 Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG2 |
Ellen McDonagh gene: ABCG2 was added gene: ABCG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ABCG2 was set to Unknown Publications for gene: ABCG2 were set to 27604308 Phenotypes for gene: ABCG2 were set to Primary idiopathic gout (Disorders of purine metabolism); [Junior blood group system] 614490; [Uric acid concentration, serum, QTL1] 138900 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1 Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C1GALT1C1 |
Ellen McDonagh gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments Publications for gene: C1GALT1C1 were set to 27604308 Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UMOD |
Ellen McDonagh gene: UMOD was added gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UMOD were set to 27604308 Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPTLC2 |
Ellen McDonagh gene: SPTLC2 was added gene: SPTLC2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 27604308 Phenotypes for gene: SPTLC2 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC52A1 |
Ellen McDonagh gene: SLC52A1 was added gene: SLC52A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC52A1 were set to 21089064 Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency 615026 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC40A1 |
Ellen McDonagh gene: SLC40A1 was added gene: SLC40A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC40A1 were set to 27604308; 11518736; 11431687; 10471458 Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069 (Disorder of iron metabolism); Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHC |
Ellen McDonagh gene: SDHC was added gene: SDHC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHC were set to 27604308 Phenotypes for gene: SDHC were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRKAG2 |
Ellen McDonagh gene: PRKAG2 was added gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 27604308 Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPI |
Ellen McDonagh gene: LIPI was added gene: LIPI was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LIPI were set to 27604308 Phenotypes for gene: LIPI were set to {Hypertriglyceridemia, susceptibility to}, 145750; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDLR |
Ellen McDonagh gene: LDLR was added gene: LDLR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 27604308 Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMBS |
Ellen McDonagh gene: HMBS was added gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 27604308 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAL |
Ellen McDonagh gene: HAL was added gene: HAL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HAL were set to 27604308 Phenotypes for gene: HAL were set to Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUD1 |
Ellen McDonagh gene: GLUD1 was added gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 27604308 Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT12 |
Ellen McDonagh gene: GALNT12 was added gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GALNT12 were set to 27604308 Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GABRG2 |
Ellen McDonagh gene: GABRG2 was added gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642 Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC5 |
Ellen McDonagh gene: DNAJC5 was added gene: DNAJC5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYCS |
Ellen McDonagh gene: CYCS was added gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYCS were set to 24326104; PMID: 18345000 Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CETP |
Ellen McDonagh gene: CETP was added gene: CETP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CETP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CETP were set to 27604308 Phenotypes for gene: CETP were set to [High density lipoprotein cholesterol level QTL 10] 143470; Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism); Hyperalphalipoproteinemia 143470 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATXN7 |
Ellen McDonagh gene: ATXN7 was added gene: ATXN7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN7 were set to 27604308 Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOB |
Ellen McDonagh gene: APOB was added gene: APOB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOB were set to 27604308 Phenotypes for gene: APOB were set to Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROD |
Ellen McDonagh gene: UROD was added gene: UROD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UROD were set to 27604308 Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TM6SF2 |
Ellen McDonagh gene: TM6SF2 was added gene: TM6SF2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TM6SF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TM6SF2 were set to 28235613 Phenotypes for gene: TM6SF2 were set to non-alcoholic fatty liver disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A4 |
Ellen McDonagh gene: SLC25A4 was added gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SDHAF2 were set to 27604308 Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RANBP2 |
Ellen McDonagh gene: RANBP2 was added gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 27604308 Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG2 |
Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions for gene: POLG2 Publications for gene POLG2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDH2 |
Ellen McDonagh gene: IDH2 was added gene: IDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH2 were set to 24049096; 20847235 Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2, 613657 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FXYD2 |
Ellen McDonagh gene: FXYD2 was added gene: FXYD2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FXYD2 were set to 27604308 Phenotypes for gene: FXYD2 were set to Hypomagnesemia 2, renal 154020; Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MT-CO3 |
Ellen McDonagh gene: MT-CO3 was added gene: MT-CO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | WFS1 |
Ellen McDonagh gene: WFS1 was added gene: WFS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27604308 Phenotypes for gene: WFS1 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TWNK |
Ellen McDonagh gene: TWNK was added gene: TWNK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 27604308 Phenotypes for gene: TWNK were set to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TREX1 |
Ellen McDonagh gene: TREX1 was added gene: TREX1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TREX1 were set to 27604308 Phenotypes for gene: TREX1 were set to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPTLC1 |
Ellen McDonagh gene: SPTLC1 was added gene: SPTLC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPTLC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTLC1 were set to 27604308 Phenotypes for gene: SPTLC1 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPG7 |
Ellen McDonagh Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7 Publications for gene SPG7 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A20 |
Ellen McDonagh gene: SLC6A20 was added gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A20 were set to 24816252; 19033659 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A19 |
Ellen McDonagh gene: SLC6A19 was added gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424 Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC36A2 |
Ellen McDonagh gene: SLC36A2 was added gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 27604308; 19033659 Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC2A1 |
Ellen McDonagh gene: SLC2A1 was added gene: SLC2A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC2A1 were set to 27604308 Phenotypes for gene: SLC2A1 were set to Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC16A1 |
Ellen McDonagh gene: SLC16A1 was added gene: SLC16A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC16A1 were set to 26608392; 17701893 Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SETX |
Ellen McDonagh gene: SETX was added gene: SETX was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SETX were set to 27604308 Phenotypes for gene: SETX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SEC23B |
Ellen McDonagh Added phenotypes Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) for gene: SEC23B Publications for gene SEC23B were changed from 27604308 to 22208203 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SEC23B |
Ellen McDonagh gene: SEC23B was added gene: SEC23B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 27604308 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCARB1 |
Ellen McDonagh gene: SCARB1 was added gene: SCARB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCARB1 were set to 27604308 Phenotypes for gene: SCARB1 were set to [High density lipoprotein cholesterol level QTL6] 610762; Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RRM2B |
Ellen McDonagh gene: RRM2B was added gene: RRM2B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 27604308 Phenotypes for gene: RRM2B were set to 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RBP4 |
Ellen McDonagh gene: RBP4 was added gene: RBP4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 27604308 Phenotypes for gene: RBP4 were set to Retinol binding protein deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPOX |
Ellen McDonagh gene: PPOX was added gene: PPOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PPOX were set to 27604308; 19460837; 9811936 Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POLG |
Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive, 258450; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 for gene: POLG Publications for gene POLG were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPLAH |
Ellen McDonagh gene: OPLAH was added gene: OPLAH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27604308 Phenotypes for gene: OPLAH were set to Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3 Publications for gene OPA3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA3 |
Ellen McDonagh gene: OPA3 was added gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFN2 |
Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 for gene: MFN2 Publications for gene MFN2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAT1A |
Ellen McDonagh gene: MAT1A was added gene: MAT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 27604308 Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LPL |
Ellen McDonagh gene: LPL was added gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LPL were set to 27604308 Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LBR |
Ellen McDonagh gene: LBR was added gene: LBR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LBR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LBR were set to 27604308 Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPD |
Ellen McDonagh gene: HPD was added gene: HPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 27604308 Phenotypes for gene: HPD were set to Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GPHN |
Ellen McDonagh gene: GPHN was added gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCH1 |
Ellen McDonagh gene: GCH1 was added gene: GCH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 27604308 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FGFR2 |
Ellen McDonagh gene: FGFR2 was added gene: FGFR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FGFR2 were set to 27604308 Phenotypes for gene: FGFR2 were set to Bilateral microtia; Deafness and congenital structural abnormalities; Craniosynostosis syndromes phenotypes; Arthrogryposis; Choanal atresia; Antley-Bixler syndrome type without disordered steroidogenesis; Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT2 |
Ellen McDonagh Added phenotypes Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); ?Seizures, scoliosis, and macrocephaly syndrome 616682 for gene: EXT2 Publications for gene EXT2 were changed from 27604308 to 12417417 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT2 |
Ellen McDonagh gene: EXT2 was added gene: EXT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EXT2 were set to 27604308 Phenotypes for gene: EXT2 were set to Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 2 133701; ?Seizures, scoliosis, and macrocephaly syndrome 616682 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNM1L |
Ellen McDonagh gene: DNM1L was added gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1L were set to 17460227; PMID: 26825290 Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHTKD1 |
Ellen McDonagh gene: DHTKD1 was added gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308 Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPOX |
Ellen McDonagh gene: CPOX was added gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPOX were set to 27604308 Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CNNM2 |
Ellen McDonagh gene: CNNM2 was added gene: CNNM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 27604308 Phenotypes for gene: CNNM2 were set to Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism); Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CAT |
Ellen McDonagh gene: CAT was added gene: CAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CAT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CAT were set to 27604308 Phenotypes for gene: CAT were set to Acatalasaemia (Other peroxisomal disorders); Acatalasemia, 614097 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP8B1 |
Ellen McDonagh gene: ATP8B1 was added gene: ATP8B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP8B1 were set to 27604308 Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 211600; Cholestasis, benign recurrent intrahepatic 243300 AR; Cholestasis, intrahepatic, of pregnancy, 1 147480 AD; Byler disease (Disorders of bile acid metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATAD3A |
Ellen McDonagh gene: ATAD3A was added gene: ATAD3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOE |
Ellen McDonagh gene: APOE was added gene: APOE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOE were set to 27604308; 24816252 Phenotypes for gene: APOE were set to Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias); Hyperlipoproteinemia, type III 617347; Sea-blue histiocyte disease 269600; Lipoprotein glomerulopathy 611771 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOA5 |
Ellen McDonagh gene: APOA5 was added gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA5 were set to 27604308 Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOA1 |
Ellen McDonagh gene: APOA1 was added gene: APOA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA1 were set to 27604308 Phenotypes for gene: APOA1 were set to Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 27604308; 12916015; 23001123 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB4 |
Ellen McDonagh gene: ABCB4 was added gene: ABCB4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCB4 were set to 27604308 Phenotypes for gene: ABCB4 were set to Gallbladder disease 1 600803 AD, AR; Cholestasis, progressive familial intrahepatic 3 602347 AR; Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport); Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VKORC1 |
Ellen McDonagh gene: VKORC1 was added gene: VKORC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: VKORC1 were set to 27604308 Phenotypes for gene: VKORC1 were set to Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC7A9 |
Ellen McDonagh gene: SLC7A9 was added gene: SLC7A9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 27604308; 24816252 Phenotypes for gene: SLC7A9 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC3A1 |
Ellen McDonagh gene: SLC3A1 was added gene: SLC3A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 27604308 Phenotypes for gene: SLC3A1 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport); Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OPA1 |
Ellen McDonagh Added phenotypes Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: OPA1 Publications for gene OPA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA1 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPD1 |
Ellen McDonagh Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1 Publications for gene HSPD1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GDAP1 |
Ellen McDonagh Added phenotypes Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K for gene: GDAP1 Publications for gene GDAP1 were changed from 11743579 to PMID: 11743579 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GDAP1 |
Ellen McDonagh gene: GDAP1 was added gene: GDAP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 11743579 Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALPL |
Ellen McDonagh gene: ALPL was added gene: ALPL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPL were set to 27604308 Phenotypes for gene: ALPL were set to Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AFG3L2 |
Ellen McDonagh Added phenotypes Ataxia, spastic, 5, autosomal recessive, 614487; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity for gene: AFG3L2 Publications for gene AFG3L2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | YARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT2 |
Ellen McDonagh gene: XYLT2 was added gene: XYLT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875; 26027496 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT1 |
Ellen McDonagh gene: XYLT1 was added gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 23982343; 24581741 Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XPNPEP3 |
Ellen McDonagh gene: XPNPEP3 was added gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to PMID: 20179356 Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | XDH |
Ellen McDonagh gene: XDH was added gene: XDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 27604308 Phenotypes for gene: XDH were set to Xanthinuria type II (Disorders of purine metabolism); Xanthinuria type I (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VPS33B |
Ellen McDonagh gene: VPS33B was added gene: VPS33B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 27604308 Phenotypes for gene: VPS33B were set to Inherited bleeding disorders; Unexplained kidney failure in young people; CAKUT; ARC Syndrome (Other metabolic disorders); Arthrogryposis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | VIPAS39 |
Ellen McDonagh gene: VIPAS39 was added gene: VIPAS39 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 27604308 Phenotypes for gene: VIPAS39 were set to Inherited bleeding disorders; ARC Syndrome (Other metabolic disorders); Arthrogryposis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROS |
Ellen McDonagh gene: UROS was added gene: UROS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 27604308 Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UROC1 |
Ellen McDonagh gene: UROC1 was added gene: UROC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 27604308 Phenotypes for gene: UROC1 were set to Intellectual disability; Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRQ |
Ellen McDonagh gene: UQCRQ was added gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRQ were set to 27604308 Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: UQCRB Publications for gene UQCRB were changed from PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh gene: UQCRB was added gene: UQCRB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) Phenotypes for gene: UQCRB were set to Mitochondrial Diseases; Mitochondrial complex III deficiency, nuclear type 3, 615158; Isolated complex III deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UPB1 |
Ellen McDonagh gene: UPB1 was added gene: UPB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UPB1 were set to 27604308 Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UMPS |
Ellen McDonagh gene: UMPS was added gene: UMPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UMPS were set to 27604308; 9042911 Phenotypes for gene: UMPS were set to Intellectual disability; Orotic aciduria; Orotic aciduria (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | UGT1A1 |
Ellen McDonagh gene: UGT1A1 was added gene: UGT1A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 27604308; 24816252 Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I 218800; Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type II 606785 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TYMP |
Ellen McDonagh gene: TYMP was added gene: TYMP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYMP were set to 27604308; 24816252 Phenotypes for gene: TYMP were set to Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TXN2 |
Ellen McDonagh gene: TXN2 was added gene: TXN2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXN2 were set to PMID: 26626369 Phenotypes for gene: TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3 Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUSC3 |
Ellen McDonagh gene: TUSC3 was added gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433 Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TUFM |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTPA |
Ellen McDonagh gene: TTPA was added gene: TTPA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTPA were set to 27604308 Phenotypes for gene: TTPA were set to TTP1 deficiency (Other disorders of vitamins and cofactors); Hereditary ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTC37 |
Ellen McDonagh gene: TTC37 was added gene: TTC37 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 27604308 Phenotypes for gene: TTC37 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 1 (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TTC19 |
Ellen McDonagh Added phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19 Publications for gene TTC19 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TSFM |
Ellen McDonagh gene: TSFM was added gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308; 25037205; 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRPM6 |
Ellen McDonagh gene: TRPM6 was added gene: TRPM6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to 27604308; 23942199; 12032570 Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal 602014; Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh Added phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis for gene: TRNT1 Publications for gene TRNT1 were changed from PMID: 26494905; PMID: 25652405 to 25652405; 26494905 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRNT1 |
Ellen McDonagh gene: TRNT1 was added gene: TRNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to PMID: 26494905; PMID: 25652405 Phenotypes for gene: TRNT1 were set to congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMU |
Ellen McDonagh Added phenotypes {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Liver failure, transient infantile, 613070 for gene: TRMU Publications for gene TRMU were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMT5 |
Ellen McDonagh gene: TRMT5 was added gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT5 were set to PMID: 26189817 Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRIM37 |
Ellen McDonagh gene: TRIM37 was added gene: TRIM37 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM37 were set to 27604308 Phenotypes for gene: TRIM37 were set to Mulibrey nanism (Other peroxisomal disorders); Mulibrey nanism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAPPC11 |
Ellen McDonagh gene: TRAPPC11 was added gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26912795 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TPP1 |
Ellen McDonagh gene: TPP1 was added gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 27604308 Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TPMT |
Ellen McDonagh gene: TPMT was added gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPMT were set to 27604308 Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM70 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex V deficiency; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: TMEM70 Publications for gene TMEM70 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM5 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 for gene: TMEM5 Publications for gene TMEM5 were changed from to 27212206 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM199 |
Ellen McDonagh gene: TMEM199 was added gene: TMEM199 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM199 were set to 26833330 Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM165 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIk 614727; CDG2K (other congenital disorders of glycosylation) for gene: TMEM165 Publications for gene TMEM165 were changed from 22683087; 27401145 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM165 |
Ellen McDonagh gene: TMEM165 was added gene: TMEM165 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087; 27401145 Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM126B |
Ellen McDonagh gene: TMEM126B was added gene: TMEM126B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774 Phenotypes for gene: TMEM126B were set to Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TMEM126A |
Ellen McDonagh gene: TMEM126A was added gene: TMEM126A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126A were set to 27604308 Phenotypes for gene: TMEM126A were set to Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy 7; 612989 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TK2 |
Ellen McDonagh gene: TK2 was added gene: TK2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 27604308 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TH |
Ellen McDonagh gene: TH was added gene: TH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 27604308 Phenotypes for gene: TH were set to Intellectual disability; Early onset dystonia; Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TFR2 |
Ellen McDonagh gene: TFR2 was added gene: TFR2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFR2 were set to 27604308 Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250; Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 27604308 Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TCN1 |
Ellen McDonagh gene: TCN1 was added gene: TCN1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN1 were set to 27604308 Phenotypes for gene: TCN1 were set to Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism); No OMIM number |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TAT |
Ellen McDonagh gene: TAT was added gene: TAT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 27604308 Phenotypes for gene: TAT were set to Intellectual disability; Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TANGO2 |
Ellen McDonagh gene: TANGO2 was added gene: TANGO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 26805782; 26805781 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TALDO1 |
Ellen McDonagh gene: TALDO1 was added gene: TALDO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TALDO1 were set to 15877206; 26238251; 21119539; 11283793; 17095351; 27604308; 18331807; 23315216 Phenotypes for gene: TALDO1 were set to Transaldolase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 27604308 Phenotypes for gene: TACO1 were set to Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SURF1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1 Publications for gene SURF1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUOX |
Ellen McDonagh gene: SUOX was added gene: SUOX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 27604308; 27289259; 12112661 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUMF1 |
Ellen McDonagh gene: SUMF1 was added gene: SUMF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 27604308 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUGCT |
Ellen McDonagh gene: SUGCT was added gene: SUGCT was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUGCT were set to 27604308 Phenotypes for gene: SUGCT were set to Glutaric aciduria type III (Organic acidurias); Glutaric aciduria type III 231690 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLG1 |
Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SUCLG1 Publications for gene SUCLG1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SUCLA2 |
Ellen McDonagh gene: SUCLA2 was added gene: SUCLA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLA2 were set to 27604308 Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STT3A |
Ellen McDonagh gene: STT3A was added gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | STAT2 |
Ellen McDonagh gene: STAT2 was added gene: STAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to PMID: 26122121 Phenotypes for gene: STAT2 were set to elongated mitochondria; severe neurological deterioration following viral infection |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL5 |
Ellen McDonagh Added phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056 for gene: ST3GAL5 Publications for gene ST3GAL5 were changed from 27604308 to 24026681; 15502825 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL5 |
Ellen McDonagh gene: ST3GAL5 was added gene: ST3GAL5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 27604308 Phenotypes for gene: ST3GAL5 were set to Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency (Disorders of complex lipid synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3 Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ST3GAL3 |
Ellen McDonagh gene: ST3GAL3 was added gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL3 were set to 21907012; 23252400 Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3 Publications for gene SRD5A3 were changed from 27480077 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh gene: SRD5A3 was added gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 27480077 Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SPR |
Ellen McDonagh gene: SPR was added gene: SPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 27604308 Phenotypes for gene: SPR were set to Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SMPD1 |
Ellen McDonagh gene: SMPD1 was added gene: SMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLCO1B3 |
Ellen McDonagh gene: SLCO1B3 was added gene: SLCO1B3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO1B3 were set to 22232210 Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLCO1B1 |
Ellen McDonagh gene: SLCO1B1 was added gene: SLCO1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO1B1 were set to 24816252; 22232210 Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 27604308 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC6A3 |
Ellen McDonagh gene: SLC6A3 was added gene: SLC6A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to 27604308 Phenotypes for gene: SLC6A3 were set to Intellectual disability; Early onset dystonia; Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC5A1 |
Ellen McDonagh gene: SLC5A1 was added gene: SLC5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A1 were set to 27604308 Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption (Disorders of glucose transport); Glucose/galactose malabsorption 606824 (Disorders of glucose transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC46A1 |
Ellen McDonagh gene: SLC46A1 was added gene: SLC46A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to 27604308 Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8 Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A8 |
Ellen McDonagh gene: SLC39A8 was added gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 27604308 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A4 |
Ellen McDonagh gene: SLC39A4 was added gene: SLC39A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 27604308 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC39A14 |
Ellen McDonagh gene: SLC39A14 was added gene: SLC39A14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 27231142 Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC37A4 |
Ellen McDonagh gene: SLC37A4 was added gene: SLC37A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A4 were set to 27604308 Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic, 232240; Glycogen storage disease Ib, 232220; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic; Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35D1 |
Ellen McDonagh Added phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) for gene: SLC35D1 Publications for gene SLC35D1 were changed from 27604308 to 19508970; 17952091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35D1 |
Ellen McDonagh gene: SLC35D1 was added gene: SLC35D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35D1 were set to 27604308 Phenotypes for gene: SLC35D1 were set to 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35C1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35C1 Publications for gene SLC35C1 were changed from 27604308 to 12476046; 11326280 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35C1 |
Ellen McDonagh gene: SLC35C1 was added gene: SLC35C1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35C1 were set to 27604308 Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A3 |
Ellen McDonagh gene: SLC35A3 was added gene: SLC35A3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A3 were set to 24031089 Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1 Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC35A1 |
Ellen McDonagh gene: SLC35A1 was added gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A1 were set to 23873973; 15576474 Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC30A10 |
Ellen McDonagh gene: SLC30A10 was added gene: SLC30A10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 27604308 Phenotypes for gene: SLC30A10 were set to Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC2A2 |
Ellen McDonagh gene: SLC2A2 was added gene: SLC2A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A2 were set to 27604308 Phenotypes for gene: SLC2A2 were set to Glycogen storage disease type XI (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glucose transporter 2 deficiency (Disorders of glucose transport); Fanconi-Bickel Syndrome; renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC27A5 |
Ellen McDonagh gene: SLC27A5 was added gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46 Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A46 |
Ellen McDonagh gene: SLC25A46 was added gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A46 were set to PMID: 26168012 Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38 Publications for gene SLC25A38 were changed from 27604308 to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh gene: SLC25A38 was added gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 27604308 Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3 Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh gene: SLC25A3 was added gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081 Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26 Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh gene: SLC25A26 was added gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to PMID: 26522469 Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A22 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22 Publications for gene SLC25A22 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A20 |
Ellen McDonagh gene: SLC25A20 was added gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A19 |
Ellen McDonagh Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19 Publications for gene SLC25A19 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A15 |
Ellen McDonagh gene: SLC25A15 was added gene: SLC25A15 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 27604308 Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A13 |
Ellen McDonagh gene: SLC25A13 was added gene: SLC25A13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 27604308 Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471; Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A12 |
Ellen McDonagh gene: SLC25A12 was added gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A12 were set to 27604308 Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A1 |
Ellen McDonagh gene: SLC25A1 was added gene: SLC25A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 27604308 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC22A5 |
Ellen McDonagh gene: SLC22A5 was added gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 27604308; 24816252 Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A3 |
Ellen McDonagh Added phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 for gene: SLC19A3 Publications for gene SLC19A3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC19A2 |
Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) for gene: SLC19A2 Publications for gene SLC19A2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC18A2 |
Ellen McDonagh gene: SLC18A2 was added gene: SLC18A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A2 were set to 27604308; 26497564; 23363473 Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC12A3 |
Ellen McDonagh gene: SLC12A3 was added gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A3 were set to 27604308 Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SKIV2L |
Ellen McDonagh gene: SKIV2L was added gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 27604308 Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SI |
Ellen McDonagh gene: SI was added gene: SI was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SI were set to 27604308; 14724820; 8648527; 16329100 Phenotypes for gene: SI were set to CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SHPK |
Ellen McDonagh gene: SHPK was added gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHPK were set to 27604308 Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SGSH |
Ellen McDonagh gene: SGSH was added gene: SGSH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3A |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SERAC1 |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1 Publications for gene SERAC1 were changed from 29205472 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SERAC1 |
Ellen McDonagh gene: SERAC1 was added gene: SERAC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29205472 Phenotypes for gene: SERAC1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHD |
Ellen McDonagh gene: SDHD was added gene: SDHD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHD were set to 27604308 Phenotypes for gene: SDHD were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex II deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHB |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB Publications for gene SDHB were changed from 27604308 to PMID: 26925370; 22972948 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHB |
Ellen McDonagh gene: SDHB was added gene: SDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHB were set to 27604308 Phenotypes for gene: SDHB were set to Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF1 |
Ellen McDonagh gene: SDHAF1 was added gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 27604308 Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHA |
Ellen McDonagh gene: SDHA was added gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCP2 |
Ellen McDonagh gene: SCP2 was added gene: SCP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 27604308 Phenotypes for gene: SCP2 were set to Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO2 |
Ellen McDonagh gene: SCO2 was added gene: SCO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 27604308 Phenotypes for gene: SCO2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SCO1 |
Ellen McDonagh gene: SCO1 was added gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO1 were set to 27604308 Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SC5D |
Ellen McDonagh gene: SC5D was added gene: SC5D was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SC5D were set to 27604308 Phenotypes for gene: SC5D were set to Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SARS2 Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh gene: SARS2 was added gene: SARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to PMID: 21255763; 24034276 Phenotypes for gene: SARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SARDH |
Ellen McDonagh gene: SARDH was added gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 27604308 Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAR1B |
Ellen McDonagh gene: SAR1B was added gene: SAR1B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAR1B were set to 27604308 Phenotypes for gene: SAR1B were set to Anderson disease (Inherited hypolipidaemias); CHYLOMICRON RETENTION DISEASE 246700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1 Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SAMHD1 |
Ellen McDonagh gene: SAMHD1 was added gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 27604308 Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SACS |
Ellen McDonagh gene: SACS was added gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RPIA |
Ellen McDonagh gene: RPIA was added gene: RPIA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 27604308; 30088433; 14988808; 28801340 Phenotypes for gene: RPIA were set to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ROBO3 |
Ellen McDonagh gene: ROBO3 was added gene: ROBO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 16525029; 15105459 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASET2 |
Ellen McDonagh gene: RNASET2 was added gene: RNASET2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 27604308 Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2C |
Ellen McDonagh gene: RNASEH2C was added gene: RNASEH2C was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 27604308 Phenotypes for gene: RNASEH2C were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3; Intracerebral calcification disorders; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2B |
Ellen McDonagh gene: RNASEH2B was added gene: RNASEH2B was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 27604308 Phenotypes for gene: RNASEH2B were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH2A |
Ellen McDonagh gene: RNASEH2A was added gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 27604308 Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH1 |
Ellen McDonagh gene: RNASEH1 was added gene: RNASEH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH1 were set to Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RMND1 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect for gene: RMND1 Publications for gene RMND1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1 Publications for gene RFT1 were changed from 23111317 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RFT1 |
Ellen McDonagh gene: RFT1 was added gene: RFT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFT1 were set to 23111317 Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23889995; 23104095 Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RARS2 |
Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2 Publications for gene RARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | QDPR |
Ellen McDonagh gene: QDPR was added gene: QDPR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 27604308 Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYGM |
Ellen McDonagh gene: PYGM was added gene: PYGM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGM were set to 27604308 Phenotypes for gene: PYGM were set to Glycogen storage disease type V, McArdle (Glycogen storage disorders); McArdle disease 232600 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYGL |
Ellen McDonagh gene: PYGL was added gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 27604308 Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PYCR1 |
Ellen McDonagh gene: PYCR1 was added gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PUS1 |
Ellen McDonagh gene: PUS1 was added gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 27604308 Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PTS |
Ellen McDonagh gene: PTS was added gene: PTS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 27604308 Phenotypes for gene: PTS were set to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSPH |
Ellen McDonagh gene: PSPH was added gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 27604308; 24816252 Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAT1 |
Ellen McDonagh gene: PSAT1 was added gene: PSAT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 27604308 Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PSAP |
Ellen McDonagh gene: PSAP was added gene: PSAP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAP were set to 27604308 Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PRODH |
Ellen McDonagh gene: PRODH was added gene: PRODH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 27604308; 24816252 Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PREPL |
Ellen McDonagh gene: PREPL was added gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 27604308 Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPT1 |
Ellen McDonagh gene: PPT1 was added gene: PPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPT1 were set to 27604308 Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPM1B |
Ellen McDonagh gene: PPM1B was added gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1B were set to 27604308; 15913950; 11524703 Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PPA2 |
Ellen McDonagh gene: PPA2 was added gene: PPA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POR |
Ellen McDonagh gene: POR was added gene: POR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POR were set to 27604308 Phenotypes for gene: POR were set to Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2 Publications for gene POMT2 were changed from 27604308 to 27421908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT2 |
Ellen McDonagh gene: POMT2 was added gene: POMT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 27604308 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 for gene: POMT1 Publications for gene POMT1 were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 27421908 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT2 |
Ellen McDonagh gene: POMGNT2 was added gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 27066570 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 for gene: POMGNT1 Publications for gene POMGNT1 were changed from 27604308 to 27421908 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | POMGNT1 |
Ellen McDonagh gene: POMGNT1 was added gene: POMGNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 27604308 Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPT1 |
Ellen McDonagh Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1 Publications for gene PNPT1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNPO |
Ellen McDonagh gene: PNPO was added gene: PNPO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPO were set to 27604308 Phenotypes for gene: PNPO were set to Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNP |
Ellen McDonagh gene: PNP was added gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 27604308 Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PNLIP |
Ellen McDonagh gene: PNLIP was added gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 27604308 Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514 Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMM2 |
Ellen McDonagh Added phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2 Publications for gene PMM2 were changed from 27604308 to 11875054; 11058895; 11409861 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMM2 |
Ellen McDonagh gene: PMM2 was added gene: PMM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 27604308 Phenotypes for gene: PMM2 were set to Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PLA2G6 |
Ellen McDonagh gene: PLA2G6 was added gene: PLA2G6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 27604308; 18570303; 16783378; 18799783 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PITRM1 |
Ellen McDonagh gene: PITRM1 was added gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to PMID: 26697887 Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PINK1 |
Ellen McDonagh gene: PINK1 was added gene: PINK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PINK1 were set to 27604308 Phenotypes for gene: PINK1 were set to Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGW |
Ellen McDonagh gene: PIGW was added gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PIGV Publications for gene PIGV were changed from 27604308 to 20802478; 24129430 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGV |
Ellen McDonagh gene: PIGV was added gene: PIGV was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGV were set to 27604308 Phenotypes for gene: PIGV were set to Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 23636107; 28327575 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh gene: PIGT was added gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 28327575 Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGO |
Ellen McDonagh gene: PIGO was added gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGO were set to 22683086; 27177984; 24129430 Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 for gene: PIGN Publications for gene PIGN were changed from 27604308 to 26419326; 21493957 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh gene: PIGN was added gene: PIGN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 27604308 Phenotypes for gene: PIGN were set to PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGM |
Ellen McDonagh gene: PIGM was added gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGM were set to 27604308; 16767100; 25293775 Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh Added phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 for gene: PIGL Publications for gene PIGL were changed from 27604308 to 22444671 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGL |
Ellen McDonagh gene: PIGL was added gene: PIGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 27604308 Phenotypes for gene: PIGL were set to PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHYKPL |
Ellen McDonagh gene: PHYKPL was added gene: PHYKPL was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 27604308 Phenotypes for gene: PHYKPL were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism); [?Phosphohydroxylysinuria] 615011 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHYH |
Ellen McDonagh gene: PHYH was added gene: PHYH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYH were set to 27604308 Phenotypes for gene: PHYH were set to Refsum disease, 266500; Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKG2 |
Ellen McDonagh gene: PHKG2 was added gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 27604308 Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKB |
Ellen McDonagh gene: PHKB was added gene: PHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKB were set to 27604308 Phenotypes for gene: PHKB were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PHGDH |
Ellen McDonagh gene: PHGDH was added gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 27604308; 24816252 Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM3 |
Ellen McDonagh gene: PGM3 was added gene: PGM3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24698316 Phenotypes for gene: PGM3 were set to Immunodeficiency 23 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM1 |
Ellen McDonagh Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1 Publications for gene PGM1 were changed from 27604308 to 27206562 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGM1 |
Ellen McDonagh gene: PGM1 was added gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 27604308 Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP3 |
Ellen McDonagh gene: PGAP3 was added gene: PGAP3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 24439110 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PGAP2 Publications for gene PGAP2 were changed from 23561846; 23561847 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAP2 |
Ellen McDonagh gene: PGAP2 was added gene: PGAP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP2 were set to 23561846; 23561847 Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGAM2 |
Ellen McDonagh gene: PGAM2 was added gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAM2 were set to 27604308 Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PFKM |
Ellen McDonagh gene: PFKM was added gene: PFKM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PFKM were set to 27604308 Phenotypes for gene: PFKM were set to Glycogen storage disease VII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX7 |
Ellen McDonagh gene: PEX7 was added gene: PEX7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX7 were set to 27604308 Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1; Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX6 |
Ellen McDonagh gene: PEX6 was added gene: PEX6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 27604308 Phenotypes for gene: PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX5 |
Ellen McDonagh gene: PEX5 was added gene: PEX5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 27604308 Phenotypes for gene: PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX3 |
Ellen McDonagh gene: PEX3 was added gene: PEX3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX3 were set to 27604308 Phenotypes for gene: PEX3 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 10A (Zellweger) 614882 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX26 |
Ellen McDonagh gene: PEX26 was added gene: PEX26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX26 were set to 27604308 Phenotypes for gene: PEX26 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 7A (Zellweger) 61487; Peroxisome biogenesis disorder 7B 614873 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX2 |
Ellen McDonagh gene: PEX2 was added gene: PEX2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 27604308 Phenotypes for gene: PEX2 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX19 were set to 27604308 Phenotypes for gene: PEX19 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 12A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 27604308 Phenotypes for gene: PEX16 were set to Disorders of peroxisome biogenesis; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisomal biogenesis disorders; Zellweger Syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 27604308 Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 27604308 Phenotypes for gene: PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 27604308 Phenotypes for gene: PEX12 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 27604308 Phenotypes for gene: PEX10 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 27604308 Phenotypes for gene: PEX1 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Peroxisome biogenesis disorder 1A (Zellweger) 214100 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100 Publications for gene PET100 were changed from PMID: 24462369 to 24462369 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PET100 |
Ellen McDonagh gene: PET100 was added gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET100 were set to PMID: 24462369 Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PEPD |
Ellen McDonagh gene: PEPD was added gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308 Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS2 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS2 Publications for gene PDSS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS1 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS1 Publications for gene PDSS1 were changed from PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS1 |
Ellen McDonagh gene: PDSS1 was added gene: PDSS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh gene: PDPR was added gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDPR were set to PMID: 25558065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP2 |
Ellen McDonagh gene: PDP2 was added gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP2 were set to 27604308 Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782; Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDP1 Publications for gene PDP1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHX |
Ellen McDonagh Added phenotypes Lacticacidemia due to PDX1 deficiency; Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) for gene: PDHX Publications for gene PDHX were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDHB |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-beta deficiency, 614111 for gene: PDHB Publications for gene PDHB were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCK1 |
Ellen McDonagh gene: PCK1 was added gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 27604308 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PC |
Ellen McDonagh gene: PC was added gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 27604308 Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PARS2 |
Ellen McDonagh gene: PARS2 was added gene: PARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to PMID: 25629079 (single case) Phenotypes for gene: PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PANK2 |
Ellen McDonagh gene: PANK2 was added gene: PANK2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 27604308 Phenotypes for gene: PANK2 were set to Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PAH |
Ellen McDonagh gene: PAH was added gene: PAH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 27604308; 24816252 Phenotypes for gene: PAH were set to Phenylketonuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OXCT1 |
Ellen McDonagh gene: OXCT1 was added gene: OXCT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 27604308 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency; severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism); Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | OAT |
Ellen McDonagh gene: OAT was added gene: OAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 27604308 Phenotypes for gene: OAT were set to Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism); Gyrate atrophy of choroid and retina with or without ornithinemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 27604308 Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUBPL |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NUBPL Publications for gene NUBPL were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NT5C3A |
Ellen McDonagh gene: NT5C3A was added gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 27604308 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 27604308 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NHLRC1 |
Ellen McDonagh gene: NHLRC1 was added gene: NHLRC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC1 were set to 27604308 Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NGLY1 |
Ellen McDonagh Added phenotypes OrphaNet: ORPHA404454; Alacrimia-choreoathetosis-liver dysfunction syndrome; OMIM:615273 for gene: NGLY1 Publications for gene NGLY1 were changed from to 25220016; 26350515; 25900930; 24651605; 25605922; 22581936; 25707956 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NFU1 |
Ellen McDonagh Added phenotypes Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: NFU1 Publications for gene NFU1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NEU1 |
Ellen McDonagh gene: NEU1 was added gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 27604308 Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV2 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2 Publications for gene NDUFV2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFV1 |
Ellen McDonagh gene: NDUFV1 was added gene: NDUFV1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV1 were set to 27604308 Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS8 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS8 Publications for gene NDUFS8 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS7 |
Ellen McDonagh gene: NDUFS7 was added gene: NDUFS7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS7 were set to 27604308 Phenotypes for gene: NDUFS7 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS6 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6 Publications for gene NDUFS6 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS4 |
Ellen McDonagh Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS4 Publications for gene NDUFS4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS3 |
Ellen McDonagh gene: NDUFS3 was added gene: NDUFS3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS3 were set to 27604308 Phenotypes for gene: NDUFS3 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS2 |
Ellen McDonagh gene: NDUFS2 was added gene: NDUFS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS2 were set to 27604308 Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFS1 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS1 Publications for gene NDUFS1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB9 |
Ellen McDonagh Added phenotypes ?Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB9 Publications for gene NDUFB9 were changed from 27604308 to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB9 |
Ellen McDonagh gene: NDUFB9 was added gene: NDUFB9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB9 were set to 27604308 Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFB3 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3 Publications for gene NDUFB3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF6 |
Ellen McDonagh gene: NDUFAF6 was added gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh Added phenotypes Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5 Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF5 |
Ellen McDonagh gene: NDUFAF5 was added gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF4 |
Ellen McDonagh gene: NDUFAF4 was added gene: NDUFAF4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF4 were set to 27604308 Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF3 |
Ellen McDonagh gene: NDUFAF3 was added gene: NDUFAF3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF3 were set to 27604308 Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF2 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF2 Publications for gene NDUFAF2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFAF1 |
Ellen McDonagh gene: NDUFAF1 was added gene: NDUFAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF1 were set to 27604308 Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA9 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9 Publications for gene NDUFA9 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA2 |
Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2 Publications for gene NDUFA2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA12 |
Ellen McDonagh gene: NDUFA12 was added gene: NDUFA12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 27604308 Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA11 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA11 Publications for gene NDUFA11 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NDUFA10 |
Ellen McDonagh gene: NDUFA10 was added gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA10 were set to 27604308 Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAT8L |
Ellen McDonagh gene: NAT8L was added gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 19807691 Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 for gene: NARS2 Publications for gene NARS2 were changed from 25629079; PMID: 25385316; 25807530 to 25629079; 25807530; 25385316 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NARS2 |
Ellen McDonagh gene: NARS2 was added gene: NARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 25629079; PMID: 25385316; 25807530 Phenotypes for gene: NARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGS |
Ellen McDonagh gene: NAGS was added gene: NAGS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 27604308 Phenotypes for gene: NAGS were set to N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias); N-acetylglutamate synthase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NAGLU |
Ellen McDonagh gene: NAGLU was added gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MVK |
Ellen McDonagh gene: MVK was added gene: MVK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27604308 Phenotypes for gene: MVK were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MUT |
Ellen McDonagh gene: MUT was added gene: MUT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 27604308 Phenotypes for gene: MUT were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Methylmalonic aciduria, mut(0) type 251000; Methylmalonyl-CoA mutase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTTP |
Ellen McDonagh gene: MTTP was added gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 27604308 Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTRR |
Ellen McDonagh gene: MTRR was added gene: MTRR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 27604308 Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTR |
Ellen McDonagh gene: MTR was added gene: MTR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 27604308 Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTPAP |
Ellen McDonagh gene: MTPAP was added gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 27604308 Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTO1 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); infantile hypertrophic cardiomyopathy and lactic acidosis. for gene: MTO1 Publications for gene MTO1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTHFR |
Ellen McDonagh gene: MTHFR was added gene: MTHFR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 27604308 Phenotypes for gene: MTHFR were set to Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport); Homocystinuria due to MTHFR deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MTFMT |
Ellen McDonagh gene: MTFMT was added gene: MTFMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 27604308 Phenotypes for gene: MTFMT were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MSMO1 |
Ellen McDonagh gene: MSMO1 was added gene: MSMO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308 Phenotypes for gene: MSMO1 were set to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS23 |
Ellen McDonagh gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS22 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22 Publications for gene MRPS22 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPS16 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 2, 610498; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS for gene: MRPS16 Publications for gene MRPS16 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MRPL3 |
Ellen McDonagh gene: MRPL3 was added gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 27604308 Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPV17 |
Ellen McDonagh gene: MPV17 was added gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 27604308 Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPI |
Ellen McDonagh Added phenotypes Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ib 602579 for gene: MPI Publications for gene MPI were changed from 27604308 to 10980531 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPI |
Ellen McDonagh gene: MPI was added gene: MPI was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 27604308 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1 Publications for gene MPDU1 were changed from 11733556 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MPDU1 |
Ellen McDonagh gene: MPDU1 was added gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOGS |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIb 606056; MOGS-CDG (Disorders of protein N-glycosylation) for gene: MOGS Publications for gene MOGS were changed from 27604308 to 20301507; 26805780; 24716661; 4716661 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOGS |
Ellen McDonagh gene: MOGS was added gene: MOGS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 27604308 Phenotypes for gene: MOGS were set to MOGS-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIb, 606056; (MOGS-CDG (Disorders of protein N-glycosylation)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOCS2 |
Ellen McDonagh gene: MOCS2 was added gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 27604308 Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MOCS1 |
Ellen McDonagh gene: MOCS1 was added gene: MOCS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27604308 Phenotypes for gene: MOCS1 were set to Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMACHC |
Ellen McDonagh gene: MMACHC was added gene: MMACHC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMAB |
Ellen McDonagh gene: MMAB was added gene: MMAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 27604308 Phenotypes for gene: MMAB were set to Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism); Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MMAA |
Ellen McDonagh gene: MMAA was added gene: MMAA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 27604308 Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100; Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MLYCD |
Ellen McDonagh gene: MLYCD was added gene: MLYCD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308 Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency; malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MGAT2 |
Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 for gene: MGAT2 Publications for gene MGAT2 were changed from 27604308 to 19419693 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MGAT2 |
Ellen McDonagh gene: MGAT2 was added gene: MGAT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 27604308 Phenotypes for gene: MGAT2 were set to N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MFF |
Ellen McDonagh Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MFF Publications for gene MFF were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MDH2 |
Ellen McDonagh gene: MDH2 was added gene: MDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 27989324 Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCOLN1 |
Ellen McDonagh gene: MCOLN1 was added gene: MCOLN1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 27604308 Phenotypes for gene: MCOLN1 were set to Mucolipidosis, Type IV; Mucolipidosis IV (Other lysosomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCEE |
Ellen McDonagh gene: MCEE was added gene: MCEE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 27604308 Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency (Organic acidurias); Methylmalonyl-CoA epimerase deficiency; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCCC2 |
Ellen McDonagh gene: MCCC2 was added gene: MCCC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MCCC1 |
Ellen McDonagh gene: MCCC1 was added gene: MCCC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 27604308; 24816252 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MARS2 |
Ellen McDonagh Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2 Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MARS2 |
Ellen McDonagh gene: MARS2 was added gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 25754315; PMID: 22448145 Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MANBA |
Ellen McDonagh gene: MANBA was added gene: MANBA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 27604308 Phenotypes for gene: MANBA were set to Mannosidosis, beta |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN2B1 |
Ellen McDonagh gene: MAN2B1 was added gene: MAN2B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 27604308 Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1 Publications for gene MAN1B1 were changed from 24348268 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh gene: MAN1B1 was added gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 24348268 Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LRPPRC |
Ellen McDonagh Added phenotypes Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: LRPPRC Publications for gene LRPPRC were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LPIN1 |
Ellen McDonagh gene: LPIN1 was added gene: LPIN1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN1 were set to 27604308 Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1 Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LONP1 |
Ellen McDonagh gene: LONP1 was added gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063 Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LMBRD1 |
Ellen McDonagh gene: LMBRD1 was added gene: LMBRD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPC were set to 27604308 Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPA |
Ellen McDonagh gene: LIPA was added gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 27604308 Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIAS |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS Publications for gene LIAS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LFNG |
Ellen McDonagh Added phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG Publications for gene LFNG were changed from 27604308 to 16385447 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LFNG |
Ellen McDonagh gene: LFNG was added gene: LFNG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LFNG were set to 27604308 Phenotypes for gene: LFNG were set to O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDLRAP1 |
Ellen McDonagh gene: LDLRAP1 was added gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 27604308 Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LDHA |
Ellen McDonagh gene: LDHA was added gene: LDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHA were set to 27604308 Phenotypes for gene: LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933; Muscle LDH deficiency (Glycogen storage disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LCT |
Ellen McDonagh gene: LCT was added gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 27604308 Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LCAT |
Ellen McDonagh gene: LCAT was added gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 27604308 Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARS2 |
Ellen McDonagh Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2 Publications for gene LARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 for gene: LARGE1 Publications for gene LARGE1 were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 27421908 Phenotypes for gene: LARGE1 were set to N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | L2HGDH |
Ellen McDonagh gene: L2HGDH was added gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KYNU |
Ellen McDonagh gene: KYNU was added gene: KYNU was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; multiple congenital malformations; ?Hydroxykynureninuria, 236800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KHK |
Ellen McDonagh gene: KHK was added gene: KHK was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KHK were set to 27604308 Phenotypes for gene: KHK were set to Essential fructosuria (Disorders of fructose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | KARS |
Ellen McDonagh Added phenotypes Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS Publications for gene KARS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IVD |
Ellen McDonagh gene: IVD was added gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 27604308; 24816252 Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ITPA |
Ellen McDonagh gene: ITPA was added gene: ITPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 27604308 Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency (Disorders of purine metabolism); Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISPD |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 for gene: ISPD Publications for gene ISPD were changed from to 26404900; 26687144 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCU |
Ellen McDonagh gene: ISCU was added gene: ISCU was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCU were set to 27604308 Phenotypes for gene: ISCU were set to Rhabdomyolysis and metabolic muscle disorders; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA2 |
Ellen McDonagh gene: ISCA2 was added gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to PMID: 25539947 Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IER3IP1 |
Ellen McDonagh gene: IER3IP1 was added gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IDUA |
Ellen McDonagh gene: IDUA was added gene: IDUA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 27604308 Phenotypes for gene: IDUA were set to Hurler syndrome; Mucopolysaccharidosis type 1H/S; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57 Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IBA57 |
Ellen McDonagh gene: IBA57 was added gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to PMID: 23462291; 25971455 Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2 Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings). |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | IARS2 |
Ellen McDonagh gene: IARS2 was added gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 27604308; 25130867; 27078007 Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HYAL1 |
Ellen McDonagh gene: HYAL1 was added gene: HYAL1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 27604308 Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX, 601492; MPS IX, Natowicz (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HTRA2 |
Ellen McDonagh gene: HTRA2 was added gene: HTRA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 27208207; 27696117 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSPA9 |
Ellen McDonagh gene: HSPA9 was added gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to PMID: 26598328 Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD3B7 |
Ellen McDonagh gene: HSD3B7 was added gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 27604308 Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD17B4 |
Ellen McDonagh gene: HSD17B4 was added gene: HSD17B4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 27604308 Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515; Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HPS1 |
Ellen McDonagh gene: HPS1 was added gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 27604308 Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HOGA1 |
Ellen McDonagh gene: HOGA1 was added gene: HOGA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 27604308 Phenotypes for gene: HOGA1 were set to Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hyperoxaluria, primary, type III 613616 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCS2 |
Ellen McDonagh gene: HMGCS2 was added gene: HMGCS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 27604308 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCL |
Ellen McDonagh Added phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) for gene: HMGCL Publications for gene HMGCL were changed from 8617516; 28583327; 9463337; 11129331 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HMGCL |
Ellen McDonagh gene: HMGCL was added gene: HMGCL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 8617516; 28583327; 9463337; 11129331 Phenotypes for gene: HMGCL were set to 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency, 246450; HMGCLD |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HLCS |
Ellen McDonagh Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS Publications for gene HLCS were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HIBCH |
Ellen McDonagh Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency; Methacrylic aciduria (Organic acidurias) for gene: HIBCH Publications for gene HIBCH were changed from 24299452; PMID: 25251209 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HIBCH |
Ellen McDonagh gene: HIBCH was added gene: HIBCH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 24299452; PMID: 25251209 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HGSNAT |
Ellen McDonagh gene: HGSNAT was added gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HGD |
Ellen McDonagh gene: HGD was added gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 27604308 Phenotypes for gene: HGD were set to Alkaptonuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HFE2 |
Ellen McDonagh gene: HFE2 was added gene: HFE2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE2 were set to 27604308 Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HFE |
Ellen McDonagh gene: HFE was added gene: HFE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HEXB |
Ellen McDonagh gene: HEXB was added gene: HEXB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to 27604308 Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HARS2 |
Ellen McDonagh gene: HARS2 was added gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HARS2 were set to 27604308 Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAMP |
Ellen McDonagh gene: HAMP was added gene: HAMP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAMP were set to 27604308 Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 27604308 Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HADH |
Ellen McDonagh gene: HADH was added gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 27604308 Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | HAAO |
Ellen McDonagh gene: HAAO was added gene: HAAO was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 27604308; 17334708; 28792876 Phenotypes for gene: HAAO were set to Multiple congenital malformations; VACTERL-like phenotype |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GYS2 |
Ellen McDonagh gene: GYS2 was added gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS2 were set to 27604308 Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GYS1 |
Ellen McDonagh gene: GYS1 was added gene: GYS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 27604308; 21958591; 24579562 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GUSB |
Ellen McDonagh gene: GUSB was added gene: GUSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 27604308 Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis VII, 253220; MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GSS |
Ellen McDonagh gene: GSS was added gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 27604308 Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GRHPR |
Ellen McDonagh gene: GRHPR was added gene: GRHPR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 27604308 Phenotypes for gene: GRHPR were set to Primary hyperoxaluria type II (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GPD1 |
Ellen McDonagh gene: GPD1 was added gene: GPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPD1 were set to 24549054; 22226083 Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile, 614480 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GORAB |
Ellen McDonagh gene: GORAB was added gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 26000619 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNS |
Ellen McDonagh gene: GNS was added gene: GNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPTG |
Ellen McDonagh gene: GNPTG was added gene: GNPTG was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTG were set to 27604308 Phenotypes for gene: GNPTG were set to Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders); mucolipidpsis type III complementation group C; Mucolipidosis, Type III Gamma; Mucolipidosis III gamma |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPTAB |
Ellen McDonagh gene: GNPTAB was added gene: GNPTAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 27604308 Phenotypes for gene: GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis III alpha/beta; Mucolipidosis II, I-cell disease (Other lysosomal disorders); Mucolipidosis II alpha/beta |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNPAT |
Ellen McDonagh gene: GNPAT was added gene: GNPAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 27604308 Phenotypes for gene: GNPAT were set to Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders); Rhizomelic chondrodysplasia punctata, type 2 222765 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNMT |
Ellen McDonagh gene: GNMT was added gene: GNMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 27604308; 17660255 Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNE |
Ellen McDonagh Added phenotypes Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: GNE Publications for gene GNE were changed from 27604308 to 26721333 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GNE |
Ellen McDonagh gene: GNE was added gene: GNE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 27604308 Phenotypes for gene: GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLYCTK |
Ellen McDonagh gene: GLYCTK was added gene: GLYCTK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLYCTK were set to 27604308 Phenotypes for gene: GLYCTK were set to D-glyceric aciduria 220120; D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLUL |
Ellen McDonagh gene: GLUL was added gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 27604308 Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLRX5 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GLRX5 Publications for gene GLRX5 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GLB1 |
Ellen McDonagh gene: GLB1 was added gene: GLB1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 27604308 Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type I, 230500 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GIF |
Ellen McDonagh gene: GIF was added gene: GIF was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIF were set to 27604308 Phenotypes for gene: GIF were set to Intrinsic factor deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1 Publications for gene GFPT1 were changed from 23569079 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh gene: GFPT1 was added gene: GFPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 23569079 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM1 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFM1 Publications for gene GFM1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFER |
Ellen McDonagh Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GFER |
Ellen McDonagh gene: GFER was added gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; PMID: 26018198 Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCSH |
Ellen McDonagh gene: GCSH was added gene: GCSH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 27604308; 16450403 Phenotypes for gene: GCSH were set to Glycine encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GCLC |
Ellen McDonagh gene: GCLC was added gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 27604308 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GBE1 |
Ellen McDonagh gene: GBE1 was added gene: GBE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GBA |
Ellen McDonagh gene: GBA was added gene: GBA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 27604308 Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type II, 230900; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease; Gaucher disease (Sphingolipidoses) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GATM |
Ellen McDonagh Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM Publications for gene GATM were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GAMT |
Ellen McDonagh gene: GAMT was added gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 27604308 Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALT |
Ellen McDonagh gene: GALT was added gene: GALT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 27604308 Phenotypes for gene: GALT were set to Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) for gene: GALNT3 Publications for gene GALNT3 were changed from 27604308 to 15133511 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNT3 |
Ellen McDonagh gene: GALNT3 was added gene: GALNT3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 27604308 Phenotypes for gene: GALNT3 were set to Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tumoral calcinosis, hyperphosphatemic, familial 211900 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALNS |
Ellen McDonagh gene: GALNS was added gene: GALNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNS were set to 27604308 Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALE |
Ellen McDonagh gene: GALE was added gene: GALE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308 Phenotypes for gene: GALE were set to Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | GALC |
Ellen McDonagh gene: GALC was added gene: GALC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 27604308 Phenotypes for gene: GALC were set to Krabbe disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC |
Ellen McDonagh gene: G6PC was added gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 27604308 Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FXN |
Ellen McDonagh gene: FXN was added gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 27604308 Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FUT8 |
Ellen McDonagh gene: FUT8 was added gene: FUT8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FTCD |
Ellen McDonagh gene: FTCD was added gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOXRED1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1 Publications for gene FOXRED1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FOLR1 |
Ellen McDonagh gene: FOLR1 was added gene: FOLR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOLR1 were set to 27604308 Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FMO3 |
Ellen McDonagh gene: FMO3 was added gene: FMO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMO3 were set to 27604308 Phenotypes for gene: FMO3 were set to Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FLAD1 |
Ellen McDonagh gene: FLAD1 was added gene: FLAD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to PubMed: 27259049 Phenotypes for gene: FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKTN |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKTN Publications for gene FKTN were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKTN |
Ellen McDonagh gene: FKTN was added gene: FKTN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 27421908 Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKRP |
Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKRP Publications for gene FKRP were changed from 27421908 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FKRP |
Ellen McDonagh gene: FKRP was added gene: FKRP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 27421908 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FH |
Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH Publications for gene FH were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FECH |
Ellen McDonagh gene: FECH was added gene: FECH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FECH were set to 27604308 Phenotypes for gene: FECH were set to Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FBP1 |
Ellen McDonagh gene: FBP1 was added gene: FBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBP1 were set to 27604308 Phenotypes for gene: FBP1 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FASTKD2 |
Ellen McDonagh gene: FASTKD2 was added gene: FASTKD2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 27604308 Phenotypes for gene: FASTKD2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FARS2 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2 Publications for gene FARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FAH |
Ellen McDonagh gene: FAH was added gene: FAH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 27604308 Phenotypes for gene: FAH were set to Tyrosinemia, type I |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | FA2H |
Ellen McDonagh gene: FA2H was added gene: FA2H was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 27604308 Phenotypes for gene: FA2H were set to Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1 Publications for gene EXT1 were changed from 12417417 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EXT1 |
Ellen McDonagh gene: EXT1 was added gene: EXT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXT1 were set to 12417417 Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETHE1 |
Ellen McDonagh Added phenotypes Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Ethylmalonic encephalopathy for gene: ETHE1 Publications for gene ETHE1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFDH |
Ellen McDonagh gene: ETFDH was added gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 27604308; 24816252 Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFB |
Ellen McDonagh gene: ETFB was added gene: ETFB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27604308 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ETFA |
Ellen McDonagh gene: ETFA was added gene: ETFA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 27604308 Phenotypes for gene: ETFA were set to Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EPM2A |
Ellen McDonagh gene: EPM2A was added gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EPG5 |
Ellen McDonagh gene: EPG5 was added gene: EPG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 28624465; 23222957; 26917586; 23674064; 25331754; 23838600; 26395118 Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ENO3 |
Ellen McDonagh gene: ENO3 was added gene: ENO3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENO3 were set to 27604308; 25267339; 11506403; 25929793 Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EGF |
Ellen McDonagh gene: EGF was added gene: EGF was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGF were set to 27604308 Phenotypes for gene: EGF were set to Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | EARS2 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: EARS2 Publications for gene EARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPYS |
Ellen McDonagh gene: DPYS was added gene: DPYS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYS were set to 27604308 Phenotypes for gene: DPYS were set to Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPYD |
Ellen McDonagh gene: DPYD was added gene: DPYD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYD were set to 27604308 Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3 Publications for gene DPM3 were changed from 27604308 to 19576565 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM3 |
Ellen McDonagh gene: DPM3 was added gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 27604308 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2 Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM2 |
Ellen McDonagh gene: DPM2 was added gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DPM1 Publications for gene DPM1 were changed from 23856421 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPM1 |
Ellen McDonagh gene: DPM1 was added gene: DPM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 23856421 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 for gene: DPAGT1 Publications for gene DPAGT1 were changed from 12872255; 22304930 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DPAGT1 |
Ellen McDonagh gene: DPAGT1 was added gene: DPAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22304930 Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DOLK |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DOLK Publications for gene DOLK were changed from 27604308 to 24144945; 22242004 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DOLK |
Ellen McDonagh gene: DOLK was added gene: DOLK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 27604308 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC19 |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type V for gene: DNAJC19 Publications for gene DNAJC19 were changed from 16055927; 27604308; 27426421; 22797137; 27928778 to 27604308; 27426421; 16055927; 27928778 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC19 |
Ellen McDonagh gene: DNAJC19 was added gene: DNAJC19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DNAJC12 |
Ellen McDonagh gene: DNAJC12 was added gene: DNAJC12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689 Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLD |
Ellen McDonagh Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD Publications for gene DLD were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DLAT |
Ellen McDonagh Added phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT Publications for gene DLAT were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHODH |
Ellen McDonagh gene: DHODH was added gene: DHODH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 27604308 Phenotypes for gene: DHODH were set to Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHFR |
Ellen McDonagh gene: DHFR was added gene: DHFR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 27604308 Phenotypes for gene: DHFR were set to Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport); Megaloblastic anemia due to dihydrofolate reductase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHDDS |
Ellen McDonagh gene: DHDDS was added gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHDDS were set to 27604308 Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Intellectual disability; IUGR and IGF abnormalities; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; Cataracts |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DHCR24 |
Ellen McDonagh gene: DHCR24 was added gene: DHCR24 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR24 were set to 27604308 Phenotypes for gene: DHCR24 were set to Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DGUOK |
Ellen McDonagh gene: DGUOK was added gene: DGUOK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 27604308 Phenotypes for gene: DGUOK were set to Deoxyguanosine kinase deficiency (Disorders of purine metabolism); Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DDOST |
Ellen McDonagh gene: DDOST was added gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 22305527 Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DDC |
Ellen McDonagh gene: DDC was added gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 27604308; 24816252 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DCXR |
Ellen McDonagh gene: DCXR was added gene: DCXR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCXR were set to 27604308 Phenotypes for gene: DCXR were set to [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DCC |
Ellen McDonagh gene: DCC was added gene: DCC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCC were set to 28250456 Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DBT |
Ellen McDonagh gene: DBT was added gene: DBT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBT were set to 27604308 Phenotypes for gene: DBT were set to Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria); Maple syrup urine disease, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | DARS2 |
Ellen McDonagh Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2 Publications for gene DARS2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | D2HGDH |
Ellen McDonagh gene: D2HGDH was added gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 27604308 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP7B1 |
Ellen McDonagh gene: CYP7B1 was added gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 27604308; 9802883 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP7A1 |
Ellen McDonagh gene: CYP7A1 was added gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7A1 were set to 27604308 Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 27604308 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSK |
Ellen McDonagh gene: CTSK was added gene: CTSK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to 27604308 Phenotypes for gene: CTSK were set to Pycnodysostosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSC |
Ellen McDonagh gene: CTSC was added gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 27604308 Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSA |
Ellen McDonagh gene: CTSA was added gene: CTSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSA were set to 27604308 Phenotypes for gene: CTSA were set to Galactosialidosis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CTNS |
Ellen McDonagh gene: CTNS was added gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 219750 Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CSTB |
Ellen McDonagh gene: CSTB was added gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 27604308 Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT2 |
Ellen McDonagh gene: CPT2 was added gene: CPT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 27604308; 24816252 Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPT1A |
Ellen McDonagh gene: CPT1A was added gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 27604308 Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CPS1 |
Ellen McDonagh gene: CPS1 was added gene: CPS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 27604308; 24816252 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX8A |
Ellen McDonagh gene: COX8A was added gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to PMID: 26685157 Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX6B1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 for gene: COX6B1 Publications for gene COX6B1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX4I2 |
Ellen McDonagh gene: COX4I2 was added gene: COX4I2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX4I2 were set to 27604308 Phenotypes for gene: COX4I2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX20 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX20 Publications for gene COX20 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX15 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15 Publications for gene COX15 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX14 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14 Publications for gene COX14 were changed from PMID: 22243966 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX14 |
Ellen McDonagh gene: COX14 was added gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX14 were set to PMID: 22243966 Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COX10 |
Ellen McDonagh Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX10 Publications for gene COX10 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ9 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9 Publications for gene COQ9 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8B |
Ellen McDonagh gene: COQ8B was added gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families). Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8A |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A Publications for gene COQ8A were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ7 |
Ellen McDonagh gene: COQ7 was added gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 26084283 Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ6 Publications for gene COQ6 were changed from PMID: 21540551 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh gene: COQ6 was added gene: COQ6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ6 were set to PMID: 21540551 Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ4 |
Ellen McDonagh Added phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 for gene: COQ4 Publications for gene COQ4 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ2 |
Ellen McDonagh Added phenotypes {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 for gene: COQ2 Publications for gene COQ2 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG8 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8 Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG8 |
Ellen McDonagh gene: COG8 was added gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG8 were set to 27604308 Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh Added phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 for gene: COG7 Publications for gene COG7 were changed from 15107842; 11980916 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG7 |
Ellen McDonagh gene: COG7 was added gene: COG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG7 were set to 15107842; 11980916 Phenotypes for gene: COG7 were set to Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG6 |
Ellen McDonagh Added phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 for gene: COG6 Publications for gene COG6 were changed from 27604308 to 26260076; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG6 |
Ellen McDonagh gene: COG6 was added gene: COG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG6 were set to 27604308 Phenotypes for gene: COG6 were set to Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG5 Publications for gene COG5 were changed from 23228021; 23430875; 28960046; 19690088; 11980916 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG5 |
Ellen McDonagh gene: COG5 was added gene: COG5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 23228021; 23430875; 28960046; 19690088; 11980916 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh Added phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 for gene: COG4 Publications for gene COG4 were changed from 27604308 to 19651599; 21185756; 19494034; 11980916 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh gene: COG4 was added gene: COG4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG4 were set to 27604308 Phenotypes for gene: COG4 were set to Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG2 |
Ellen McDonagh gene: COG2 was added gene: COG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG2 were set to 11980916; 24784932 Phenotypes for gene: COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COG1 |
Ellen McDonagh Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1 Publications for gene COG1 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COA5 |
Ellen McDonagh Added phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COA5 Publications for gene COA5 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPB |
Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder for gene: CLPB Publications for gene CLPB were changed from PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 to 25597510; 25597511; 25650066; 25595726 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPB |
Ellen McDonagh gene: CLPB was added gene: CLPB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLDN19 |
Ellen McDonagh gene: CLDN19 was added gene: CLDN19 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 27604308 Phenotypes for gene: CLDN19 were set to Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CLDN16 |
Ellen McDonagh gene: CLDN16 was added gene: CLDN16 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN16 were set to 27604308 Phenotypes for gene: CLDN16 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CISD2 |
Ellen McDonagh gene: CISD2 was added gene: CISD2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CISD2 were set to 27604308 Phenotypes for gene: CISD2 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1 Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHSY1 |
Ellen McDonagh gene: CHSY1 was added gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 27604308 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST6 |
Ellen McDonagh Added phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6 Publications for gene CHST6 were changed from 16568029 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST6 |
Ellen McDonagh gene: CHST6 was added gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST6 were set to 16568029 Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3 Publications for gene CHST3 were changed from 27604308 to 20830804 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST3 |
Ellen McDonagh gene: CHST3 was added gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST3 were set to 27604308 Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST14 Publications for gene CHST14 were changed from 26646600 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHST14 |
Ellen McDonagh gene: CHST14 was added gene: CHST14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 26646600 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CHKB |
Ellen McDonagh gene: CHKB was added gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CEP89 |
Ellen McDonagh gene: CEP89 was added gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to PMID: 23575228 Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CCDC115 |
Ellen McDonagh gene: CCDC115 was added gene: CCDC115 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC115 were set to 26833332 Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo 616828 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CA5A |
Ellen McDonagh gene: CA5A was added gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 27604308 Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C19orf12 |
Ellen McDonagh gene: C19orf12 was added gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 27604308 Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | C12orf65 |
Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65 Publications for gene C12orf65 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BTD |
Ellen McDonagh gene: BTD was added gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BTD were set to 27604308 Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BOLA3 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3 Publications for gene BOLA3 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCS1L |
Ellen McDonagh gene: BCS1L was added gene: BCS1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 27604308 Phenotypes for gene: BCS1L were set to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDK |
Ellen McDonagh gene: BCKDK was added gene: BCKDK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDK were set to 27604308; 22956686 Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDHB |
Ellen McDonagh gene: BCKDHB was added gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 27604308 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BCKDHA |
Ellen McDonagh gene: BCKDHA was added gene: BCKDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 27604308 Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia; BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | BAAT |
Ellen McDonagh gene: BAAT was added gene: BAAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAAT were set to 27604308; 23415802 Phenotypes for gene: BAAT were set to Hypercholanemia, familial |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT7 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7 Publications for gene B4GALT7 were changed from 27827381 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT7 |
Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 27827381 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT1 |
Ellen McDonagh Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1 Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B4GALT1 |
Ellen McDonagh gene: B4GALT1 was added gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 27604308 Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GLCT |
Ellen McDonagh gene: B3GLCT was added gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 27604308 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GAT3 |
Ellen McDonagh Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GAT3 Publications for gene B3GAT3 were changed from 27871226; 26086840; 21763480 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GAT3 |
Ellen McDonagh gene: B3GAT3 was added gene: B3GAT3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 27871226; 26086840; 21763480 Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALT6 |
Ellen McDonagh gene: B3GALT6 was added gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 23664117; 23664118 Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | B3GALNT2 |
Ellen McDonagh gene: B3GALNT2 was added gene: B3GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALNT2 were set to 23453667 Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AUH |
Ellen McDonagh gene: AUH was added gene: AUH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 27604308 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I; Methylglutaconic aciduria type I (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATPAF2 |
Ellen McDonagh Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2 Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATPAF2 |
Ellen McDonagh gene: ATPAF2 was added gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 27604308 Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex V deficiency; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP7B |
Ellen McDonagh gene: ATP7B was added gene: ATP7B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27604308 Phenotypes for gene: ATP7B were set to Wilson disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6V0A2 |
Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2 Publications for gene ATP6V0A2 were changed from 20301755 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP6V0A2 |
Ellen McDonagh gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A2 were set to 20301755 Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5A1 |
Ellen McDonagh Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1 Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion). |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATP5A1 |
Ellen McDonagh gene: ATP5A1 was added gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5A1 were set to 27604308 Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ATIC |
Ellen McDonagh gene: ATIC was added gene: ATIC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 27604308 Phenotypes for gene: ATIC were set to Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASS1 |
Ellen McDonagh gene: ASS1 was added gene: ASS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 27604308 Phenotypes for gene: ASS1 were set to Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias); Citrullinemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASPA |
Ellen McDonagh gene: ASPA was added gene: ASPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPA were set to 27604308 Phenotypes for gene: ASPA were set to Canavan disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASL |
Ellen McDonagh gene: ASL was added gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 27604308 Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ASAH1 |
Ellen McDonagh gene: ASAH1 was added gene: ASAH1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 27604308 Phenotypes for gene: ASAH1 were set to Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSB |
Ellen McDonagh gene: ARSB was added gene: ARSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARSA |
Ellen McDonagh gene: ARSA was added gene: ARSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSA were set to 27604308; 24816252 Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ARG1 |
Ellen McDonagh gene: ARG1 was added gene: ARG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 27604308 Phenotypes for gene: ARG1 were set to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APTX |
Ellen McDonagh gene: APTX was added gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 27604308 Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APRT |
Ellen McDonagh gene: APRT was added gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 27604308 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APOC2 |
Ellen McDonagh gene: APOC2 was added gene: APOC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOC2 were set to 27604308 Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750; Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMT |
Ellen McDonagh gene: AMT was added gene: AMT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27604308 Phenotypes for gene: AMT were set to Glycine encephalopathy |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMPD1 |
Ellen McDonagh gene: AMPD1 was added gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27604308 Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMN |
Ellen McDonagh gene: AMN was added gene: AMN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMN were set to 27604308 Phenotypes for gene: AMN were set to Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism); Proteinuric renal disease; Unexplained kidney failure in young people |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AMACR |
Ellen McDonagh gene: AMACR was added gene: AMACR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 27604308 Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG9 |
Ellen McDonagh Added phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 for gene: ALG9 Publications for gene ALG9 were changed from 27604308; 15148656; 25966638 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG9 |
Ellen McDonagh gene: ALG9 was added gene: ALG9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 27604308; 15148656; 25966638 Phenotypes for gene: ALG9 were set to Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh Added phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 for gene: ALG8 Publications for gene ALG8 were changed from 12480927; 15235028 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG8 |
Ellen McDonagh gene: ALG8 was added gene: ALG8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG8 were set to 12480927; 15235028 Phenotypes for gene: ALG8 were set to Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6 Publications for gene ALG6 were changed from 10914684 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG6 |
Ellen McDonagh gene: ALG6 was added gene: ALG6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG6 were set to 10914684 Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG3 |
Ellen McDonagh Added phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110 for gene: ALG3 Publications for gene ALG3 were changed from 27604308 to 15108280; 19862844 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG3 |
Ellen McDonagh gene: ALG3 was added gene: ALG3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 27604308 Phenotypes for gene: ALG3 were set to Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation); ALG3-CDG (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG2 |
Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 for gene: ALG2 Publications for gene ALG2 were changed from 27604308 to 12684507; 23404334 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG2 |
Ellen McDonagh gene: ALG2 was added gene: ALG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to 27604308 Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14 Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh gene: ALG14 was added gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 27604308 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12 Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh gene: ALG12 was added gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 27604308 Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11 Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh gene: ALG11 was added gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG11 were set to 27604308; 22213132 Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh Added phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1 Publications for gene ALG1 were changed from 27604308 to 22966035; 14973782; 26931382 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh gene: ALG1 was added gene: ALG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG1 were set to 27604308 Phenotypes for gene: ALG1 were set to Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDOB |
Ellen McDonagh gene: ALDOB was added gene: ALDOB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 27604308 Phenotypes for gene: ALDOB were set to hereditary fructose intolerance; Hereditary fructose intolerance (Disorders of fructose metabolism); acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDOA |
Ellen McDonagh gene: ALDOA was added gene: ALDOA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 27604308 Phenotypes for gene: ALDOA were set to Glycogen Storage Disease; Aldolase A deficiency (Glycogen storage disorders); Glycogen storage disease XII, 611881 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH7A1 |
Ellen McDonagh gene: ALDH7A1 was added gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 27604308 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH6A1 |
Ellen McDonagh gene: ALDH6A1 was added gene: ALDH6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 27604308 Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency 614105; 3-Hydroxyisobutyric aciduria (Organic acidurias); Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH5A1 |
Ellen McDonagh gene: ALDH5A1 was added gene: ALDH5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 27604308 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH4A1 |
Ellen McDonagh gene: ALDH4A1 was added gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 27604308 Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH3A2 |
Ellen McDonagh gene: ALDH3A2 was added gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 27604308 Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH18A1 |
Ellen McDonagh gene: ALDH18A1 was added gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 27604308; 24816252 Phenotypes for gene: ALDH18A1 were set to Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALAD |
Ellen McDonagh gene: ALAD was added gene: ALAD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALAD were set to 27604308 Phenotypes for gene: ALAD were set to {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias); Porphyria, acute hepatic 612740 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AKR1D1 |
Ellen McDonagh gene: AKR1D1 was added gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 27604308; 24816252 Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AHCY |
Ellen McDonagh gene: AHCY was added gene: AHCY was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 27604308 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGXT |
Ellen McDonagh gene: AGXT was added gene: AGXT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGXT were set to 27604308 Phenotypes for gene: AGXT were set to Primary hyperoxaluria type I (Other peroxisomal disorders); Primary hyperoxaluria type I (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type 1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGPS |
Ellen McDonagh gene: AGPS was added gene: AGPS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPS were set to 27604308 Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGL |
Ellen McDonagh gene: AGL was added gene: AGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 27604308 Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen storage disease IIIb, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGK |
Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis); Sengers syndrome, 212350; Sengers syndrome 212350; Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691 for gene: AGK Publications for gene AGK were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGK |
Ellen McDonagh gene: AGK was added gene: AGK was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Mitochondrial DNA depletion syndrome 10; Sengers syndrome, 212350; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AGA |
Ellen McDonagh gene: AGA was added gene: AGA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 27604308 Phenotypes for gene: AGA were set to Aspartylglucosaminuria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADSL |
Ellen McDonagh gene: ADSL was added gene: ADSL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 27604308 Phenotypes for gene: ADSL were set to Intellectual disability; Epileptic encephalopathy; Adenylosuccinate lyase deficiency (Disorders of purine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ADA |
Ellen McDonagh gene: ADA was added gene: ADA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 27604308 Phenotypes for gene: ADA were set to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACY1 |
Ellen McDonagh gene: ACY1 was added gene: ACY1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 27604308 Phenotypes for gene: ACY1 were set to Intellectual disability; Aminoacylase 1 deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACSF3 |
Ellen McDonagh gene: ACSF3 was added gene: ACSF3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 27604308 Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACOX1 |
Ellen McDonagh gene: ACOX1 was added gene: ACOX1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX1 were set to 27604308 Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency; Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAT1 |
Ellen McDonagh gene: ACAT1 was added gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 27604308 Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADVL |
Ellen McDonagh gene: ACADVL was added gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308 Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADSB |
Ellen McDonagh gene: ACADSB was added gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 27604308 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADS |
Ellen McDonagh gene: ACADS was added gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 27604308; 24816252 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACADM |
Ellen McDonagh gene: ACADM was added gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADM were set to 27604308; 24816252 Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9 Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD9 |
Ellen McDonagh gene: ACAD9 was added gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD9 were set to PMID:17564966; 21057504 Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ACAD8 |
Ellen McDonagh gene: ACAD8 was added gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 27604308 Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABHD5 |
Ellen McDonagh gene: ABHD5 was added gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 27604308 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABHD12 |
Ellen McDonagh gene: ABHD12 was added gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 27604308 Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG8 |
Ellen McDonagh gene: ABCG8 was added gene: ABCG8 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG8 were set to 27604308 Phenotypes for gene: ABCG8 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCG5 |
Ellen McDonagh gene: ABCG5 was added gene: ABCG5 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG5 were set to 27604308 Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCD4 |
Ellen McDonagh gene: ABCD4 was added gene: ABCD4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635 Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB11 |
Ellen McDonagh gene: ABCB11 was added gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 27604308 Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCA1 |
Ellen McDonagh gene: ABCA1 was added gene: ABCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 27604308 Phenotypes for gene: ABCA1 were set to Tangier disease (Disorders of high density lipoprotein metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABAT |
Ellen McDonagh gene: ABAT was added gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AASS |
Ellen McDonagh gene: AASS was added gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 27604308 Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2 Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | AARS2 |
Ellen McDonagh gene: AARS2 was added gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy |