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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.
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
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
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
Likely inborn error of metabolism - targeted testing not possible v4.113 CLCN7 Sarah Leigh gene: CLCN7 was added
gene: CLCN7 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: CLCN7.
Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN7 were set to 31155284
Phenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Likely inborn error of metabolism - targeted testing not possible v4.111 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
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
Likely inborn error of metabolism - targeted testing not possible v4.108 CLCN6 Sarah Leigh gene: CLCN6 was added
gene: CLCN6 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Other
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870
Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Review for gene: CLCN6 was set to RED
Added comment: Sources: Other
Likely inborn error of metabolism - targeted testing not possible v4.107 LMF1 Sarah Leigh 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
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
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
Likely inborn error of metabolism - targeted testing not possible v4.100 CAMLG Sarah Leigh gene: CAMLG was added
gene: CAMLG was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature
Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMLG were set to 35262690
Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201
Likely inborn error of metabolism - targeted testing not possible v4.99 ALG10 Sarah Leigh gene: ALG10 was added
gene: ALG10 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG10 were set to 33798445
Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG
Likely inborn error of metabolism - targeted testing not possible v4.98 MAN2B2 Sarah Leigh gene: MAN2B2 was added
gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018; 35637269
Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286
Likely inborn error of metabolism - targeted testing not possible v4.97 COG3 Sarah Leigh gene: COG3 was added
gene: COG3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG3 were set to 37711075
Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546
Likely inborn error of metabolism - targeted testing not possible v4.95 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
Likely inborn error of metabolism - targeted testing not possible v4.77 ACACA Hannah Knight gene: ACACA was added
gene: ACACA was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature
Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACACA were set to 34552920
Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency
Review for gene: ACACA was set to AMBER
Added comment: PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v4.77 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.
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.
Likely inborn error of metabolism - targeted testing not possible v3.13 SLC31A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases reported with neurodegeneration associated with copper deficiency.

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

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

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

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

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

PMID:36562171 reported a newborn infant of consanguineous parents with a homozygous pathogenic variant p.Leu79Pro in CTR1. This infant was born with pulmonary hypoplasia. At two weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. Laboratory investigations revealed very low serum concentrations of copper and ceruloplasmin. The infant died at one month of age.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v3.10 CRLS1 Achchuthan Shanmugasundram 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
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
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
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).
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
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
Likely inborn error of metabolism - targeted testing not possible v2.166 GMPPA Arina Puzriakova gene: GMPPA was added
gene: GMPPA was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
for-review tags were added to gene: GMPPA.
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193; 28574218
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Likely inborn error of metabolism - targeted testing not possible v2.165 GALNT2 Arina Puzriakova gene: GALNT2 was added
gene: GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature
for-review tags were added to gene: GALNT2.
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 27508872; 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt 618885
Likely inborn error of metabolism - targeted testing not possible v2.164 FUK Arina Puzriakova gene: FUK was added
gene: FUK was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
watchlist, new-gene-name tags were added to gene: FUK.
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Likely inborn error of metabolism - targeted testing not possible v2.163 EOGT Arina Puzriakova gene: EOGT was added
gene: EOGT was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: EOGT.
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOGT were set to 23522784; 31368252; 29924900
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124
Likely inborn error of metabolism - targeted testing not possible v2.162 SSR3 Arina Puzriakova gene: SSR3 was added
gene: SSR3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SSR3 were set to 30945312
Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation
Likely inborn error of metabolism - targeted testing not possible v2.161 CSGALNACT1 Arina Puzriakova gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Inborn errors of metabolism. Sources: Expert list,Expert Review Amber
for-review tags were added to gene: CSGALNACT1.
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655; 31705726
Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Likely inborn error of metabolism - targeted testing not possible v2.160 B4GALNT1 Arina Puzriakova gene: B4GALNT1 was added
gene: B4GALNT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: B4GALNT1.
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 23746551; 24103911
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213
Likely inborn error of metabolism - targeted testing not possible v2.159 APOA5 Sarah Leigh Publications for gene: APOA5 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v2.157 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
Likely inborn error of metabolism - targeted testing not possible v2.154 IDH1 Andžela Lazdāne gene: IDH1 was added
gene: IDH1 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: IDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH1 were set to PMID: 33340416
Phenotypes for gene: IDH1 were set to Failure to thrive; Psychomotor delay; Feeding difficulties; Increased D-2-Hydroxyglutaric acid in urine
Review for gene: IDH1 was set to AMBER
Added comment: Isocitrate dehydrogenase 1 deficiency.

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

IEM Nosology Group:Disorders of ketone body metabolism
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.154 PEX6 Sarah Leigh 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
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
Likely inborn error of metabolism - targeted testing not possible v2.51 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 23519211; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Review for gene: POMK was set to GREEN
gene: POMK was marked as current diagnostic
Added comment: Other enzyme deficiencies causing dystroglycanopathies are included in the panel.
Sources: Expert Review
Likely inborn error of metabolism - targeted testing not possible v2.51 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Likely inborn error of metabolism - targeted testing not possible v2.51 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v2.51 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Likely inborn error of metabolism - targeted testing not possible v2.50 GLS_GCA Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases and supportive functional data for inclusion as diagnostic-grade.

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

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

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

When excluding cases with the STR, the remaining evidence is not sufficient for inclusion as diagnostic-grade and therefore this gene is tagged 'for-review' to assess whether it should be downgraded to Amber until the STR is validated or additional cases arise.
Likely inborn error of metabolism - targeted testing not possible v2.47 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
Likely inborn error of metabolism - targeted testing not possible v2.35 HS2ST1 Ivone Leong gene: HS2ST1 was added
gene: HS2ST1 was added to Inborn errors of metabolism. Sources: Literature
for-review tags were added to gene: HS2ST1.
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Intellectual disability; dysmorphic features; congenital anomalies
Review for gene: HS2ST1 was set to AMBER
Added comment: This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Only 2 of 3 unrelated families with affected individuals described in PMID: 33159882 were reported to have ID. The affected individuals in the third family could not be assessed for ID. Other features affected individuals had were muscular hypotonia, hypoplasia/agenesis of corpus callosum, skeletal abnormalities, uni/bilateral renal agenesis (2/3) and craniofacial dysmorphism. This gene should be considered for Green gene rating status at the next review.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v2.33 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
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
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
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
Likely inborn error of metabolism - targeted testing not possible v2.1 PCYT2 Sarah Leigh gene: PCYT2 was added
gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088
Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made.
Sources: Literature
Likely inborn error of metabolism - targeted testing not possible v1.425 CYCS Sarah Leigh reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism - targeted testing not possible v1.425 PDK3 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
The phenotype of ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905, is not relevant to the "Inborn errors of metabolism" panel, which is why it is rated Amber (clinical opinion of Helen Britain, GEL Clinical Fellow).
Likely inborn error of metabolism - targeted testing not possible v1.422 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
Likely inborn error of metabolism - targeted testing not possible v1.406 TMEM65 Catherine Snow gene: TMEM65 was added
gene: TMEM65 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy
Likely inborn error of metabolism - targeted testing not possible v1.406 TIMMDC1 Catherine Snow gene: TIMMDC1 was added
gene: TIMMDC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Likely inborn error of metabolism - targeted testing not possible v1.406 TFAM Catherine Snow gene: TFAM was added
gene: TFAM was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Likely inborn error of metabolism - targeted testing not possible v1.406 SSBP1 Catherine Snow gene: SSBP1 was added
gene: SSBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SSBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SSBP1 were set to 31298765
Likely inborn error of metabolism - targeted testing not possible v1.406 SLC25A32 Catherine Snow gene: SLC25A32 was added
gene: SLC25A32 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive
Likely inborn error of metabolism - targeted testing not possible v1.406 PTCD3 Catherine Snow gene: PTCD3 was added
gene: PTCD3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 30706245
Phenotypes for gene: PTCD3 were set to low birth weight, mental retardation, and optic atrophy
Likely inborn error of metabolism - targeted testing not possible v1.406 PET117 Catherine Snow gene: PET117 was added
gene: PET117 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to lesions in the medulla oblongata
Likely inborn error of metabolism - targeted testing not possible v1.406 NSUN3 Catherine Snow gene: NSUN3 was added
gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to Combined mitochondrial respiratory chain complex deficiency
Likely inborn error of metabolism - targeted testing not possible v1.406 MSTO1 Catherine Snow gene: MSTO1 was added
gene: MSTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675
Likely inborn error of metabolism - targeted testing not possible v1.406 MRPS14 Catherine Snow gene: MRPS14 was added
gene: MRPS14 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, 618378
Likely inborn error of metabolism - targeted testing not possible v1.406 MRM2 Catherine Snow gene: MRM2 was added
gene: MRM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to ?Mitochondrial DNA depletion syndrome 17, 618567
Likely inborn error of metabolism - targeted testing not possible v1.406 ERAL1 Catherine Snow gene: ERAL1 was added
gene: ERAL1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Likely inborn error of metabolism - targeted testing not possible v1.404 COASY Catherine Snow gene: COASY was added
gene: COASY was added to Inborn errors of metabolism. Sources: Expert list
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266
Review for gene: COASY was set to AMBER
Added comment: COASY has sufficient evidence to be made Green however as it has been purposefully not rated by experts as Green on Mitochondrial Panels COASY will be rated as Amber.
Sources: Expert list
Likely inborn error of metabolism - targeted testing not possible v1.403 MRPS7 Catherine Snow Publications for gene: MRPS7 were set to
Likely inborn error of metabolism - targeted testing not possible v1.400 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.
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.
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).
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.
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).
Likely inborn error of metabolism - targeted testing not possible v1.323 COX8A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency.
No further variants reported to date (30/09/2019).
Likely inborn error of metabolism - targeted testing not possible v1.321 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.
Likely inborn error of metabolism - targeted testing not possible v1.311 PDK1 Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.
Likely inborn error of metabolism - targeted testing not possible v1.311 NDUFA12 Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 MRPS16 Sarah Leigh changed review comment from: Comment on list classification: Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 COX4I2 Sarah Leigh changed review comment from: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).
Likely inborn error of metabolism - targeted testing not possible v1.311 COA5 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and as a possible G2P. At least 1 variant reported.
Likely inborn error of metabolism - targeted testing not possible v1.311 COA5 Sarah Leigh changed review comment from: Comment on list classification: No additional variants have been reported to date.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. No additional variants have been reported to date.
Likely inborn error of metabolism - targeted testing not possible v1.311 ATP5E Sarah Leigh changed review comment from: Comment on list classification: Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Based on Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.311 ATP5A1 Sarah Leigh changed review comment from: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys mentioned in this article have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism - targeted testing not possible v1.311 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308; 26801680; 28902413
Likely inborn error of metabolism - targeted testing not possible v1.310 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.308 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).
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.
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.
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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.273 RNASEH2B Ivone Leong changed review comment from: Comment on list classification: Demoted from Amber to Red. RNASEH2B is associated with Aicardi-Goutieres syndrome 2 on OMIM and Gene2Phenotype. There are 2 unrelated cases on OMIM supporting the gene-disease link between RNASEH2B with Aicardi-Goutieres syndrome; however, RNASEH2B does not appear to be associated with a metabolic phenotype. Therefore this gene has been demoted to red.

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

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

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism - targeted testing not possible v1.269 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.
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.
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.
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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.235 PINK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.
Likely inborn error of metabolism - targeted testing not possible v1.234 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).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism - targeted testing not possible v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism - targeted testing not possible v1.230 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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.222 PEPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.220 PDPR Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism - targeted testing not possible v1.219 PDPR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism - targeted testing not possible v1.217 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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.209 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.
Likely inborn error of metabolism - targeted testing not possible v1.205 PANK2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Likely inborn error of metabolism - targeted testing not possible v1.202 OPLAH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion.
Likely inborn error of metabolism - targeted testing not possible v1.201 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.
Likely inborn error of metabolism - targeted testing not possible v1.200 OCRL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Likely inborn error of metabolism - targeted testing not possible v1.199 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.
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.
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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.176 MAOA Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.175 MAGT1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases, together with mouse knock-out model (PMID 29581357).
Likely inborn error of metabolism - targeted testing not possible v1.174 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.
Likely inborn error of metabolism - targeted testing not possible v1.167 LDLRAP1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.166 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.
Likely inborn error of metabolism - targeted testing not possible v1.160 LBR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471.
Likely inborn error of metabolism - targeted testing not possible v1.159 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.
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.
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).
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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism - targeted testing not possible v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism - targeted testing not possible v1.141 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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.131 GAMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.130 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.
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.
Likely inborn error of metabolism - targeted testing not possible v1.120 FECH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 16 variants identified in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.118 DPM3 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.117 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).
Likely inborn error of metabolism - targeted testing not possible v1.113 DHODH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380).
Likely inborn error of metabolism - targeted testing not possible v1.112 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.
Likely inborn error of metabolism - targeted testing not possible v1.109 DHCR24 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least cases, two of the variants were in cis in a case which was compound heterozygous with another variant (PMID 11519011). Supportive functional studies were also presented.
Likely inborn error of metabolism - targeted testing not possible v1.108 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.
Likely inborn error of metabolism - targeted testing not possible v1.102 DCXR Sarah Leigh Publications for gene: DCXR were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.101 CYP7B1 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.
Likely inborn error of metabolism - targeted testing not possible v1.101 CYP7B1 Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883
Likely inborn error of metabolism - targeted testing not possible v1.100 CYP7B1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.
Likely inborn error of metabolism - targeted testing not possible v1.98 CTSC Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
Likely inborn error of metabolism - targeted testing not possible v1.97 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.
Likely inborn error of metabolism - targeted testing not possible v1.92 CLDN16 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases.
Likely inborn error of metabolism - targeted testing not possible v1.91 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.
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.
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).
Likely inborn error of metabolism - targeted testing not possible v1.85 ALG13 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported, one of which (c.320A>G, p.N107S) is associated with Epileptic encephalopathy, early infantile, 36 300884 as a de novo variant in at least 6 unrelated cases, athough the conection with Congenital disorder of glycosylation, type Is 300884 is not clear from these cases. The second variant was reported in an infant who died at age 1 year. Transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with a diagnostic classification of congenital disorder of glycosylation type Is (CDG1S). Studies of patient-derived cells showed decreased enzyme activity, at about 17% of wildtype (PMID 22492991).
Likely inborn error of metabolism - targeted testing not possible v1.85 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Likely inborn error of metabolism - targeted testing not possible v1.84 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Likely inborn error of metabolism - targeted testing not possible v1.84 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.83 ALPL Sarah Leigh 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)
Likely inborn error of metabolism - targeted testing not possible v1.76 UQCRB Sarah Leigh Source Expert Review Green was added to UQCRB.
Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB
Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TUFM Sarah Leigh Source Expert Review Green was added to TUFM.
Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM
Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRMT5 Sarah Leigh Source Expert Review Green was added to TRMT5.
Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5
Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRMT10C Sarah Leigh Source Expert Review Green was added to TRMT10C.
Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Publications for gene TRMT10C were changed from to 27132592
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TRIT1 Sarah Leigh Source Expert Review Green was added to TRIT1.
Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1
Publications for gene TRIT1 were changed from to 24901367; 28185376
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 TOP3A Sarah Leigh gene: TOP3A was added
gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Likely inborn error of metabolism - targeted testing not possible v1.76 TMEM126B Sarah Leigh Source Expert Review Green was added to TMEM126B.
Added phenotypes Isolated complex I deficiency for gene: TMEM126B
Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SLC25A42 Sarah Leigh Source Expert Review Green was added to SLC25A42.
Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42
Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SLC25A12 Sarah Leigh Source Expert Review Green was added to SLC25A12.
Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12
Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 SFXN4 Sarah Leigh Source Expert Review Green was added to SFXN4.
Mode of inheritance for gene SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Publications for gene SFXN4 were changed from to 24119684
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 RTN4IP1 Sarah Leigh Source Expert Review Green was added to RTN4IP1.
Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1
Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Publications for gene QRSL1 were changed from to 29440775; 26741492
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8
Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PMPCB Sarah Leigh gene: PMPCB was added
gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Likely inborn error of metabolism - targeted testing not possible v1.76 PITRM1 Sarah Leigh Source Expert Review Green was added to PITRM1.
Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1
Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 PARS2 Sarah Leigh Source Expert Review Green was added to PARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2
Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFB8 Sarah Leigh Source Expert Review Green was added to NDUFB8.
Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8
Publications for gene NDUFB8 were changed from to 27290639; 29429571
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFAF8 Sarah Leigh gene: NDUFAF8 was added
gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA9 Sarah Leigh Source Expert Review Green was added to NDUFA9.
Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6
Publications for gene NDUFA6 were changed from to 30245030
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NDUFA4 Sarah Leigh Source Expert Review Green was added to NDUFA4.
Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4
Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NAXE Sarah Leigh Source Expert Review Green was added to NAXE.
Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE
Publications for gene NAXE were changed from to 27616477; 27290639; 27122014
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 NADK2 Sarah Leigh Source Expert Review Green was added to NADK2.
Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2
Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MTPAP Sarah Leigh Source Expert Review Green was added to MTPAP.
Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP
Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT
Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MRPS2 Sarah Leigh Source Expert Review Green was added to MRPS2.
Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2
Publications for gene MRPS2 were changed from to 29576219
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MRPL3 Sarah Leigh Source Expert Review Green was added to MRPL3.
Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MPC1 Sarah Leigh Source Expert Review Green was added to MPC1.
Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1
Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MIPEP Sarah Leigh gene: MIPEP was added
gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Likely inborn error of metabolism - targeted testing not possible v1.76 MICU1 Sarah Leigh Source Expert Review Green was added to MICU1.
Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1
Publications for gene MICU1 were changed from to 24336167; 29721912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 MECR Sarah Leigh Source Expert Review Green was added to MECR.
Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 LYRM7 Sarah Leigh Source Expert Review Green was added to LYRM7.
Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7
Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 LIPT2 Sarah Leigh Source Expert Review Green was added to LIPT2.
Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Publications for gene LIPT2 were changed from to 28803783; 28757203
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 ISCU Sarah Leigh Source Expert Review Green was added to ISCU.
Mode of inheritance for gene ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU
Publications for gene ISCU were changed from 27604308 to 18304497; 29079705; 18296749; 19567699; 20206689
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 ISCA1 Sarah Leigh gene: ISCA1 was added
gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 29767723; 28356563
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Likely inborn error of metabolism - targeted testing not possible v1.76 HSD17B10 Sarah Leigh Source Expert Review Green was added to HSD17B10.
Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10
Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 HARS2 Sarah Leigh Source Expert Review Green was added to HARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2
Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 GFM2 Sarah Leigh Source Expert Review Green was added to GFM2.
Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2
Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 COA7 Sarah Leigh gene: COA7 was added
gene: COA7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Likely inborn error of metabolism - targeted testing not possible v1.76 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2
Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.76 C19orf70 Sarah Leigh gene: C19orf70 was added
gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329
Likely inborn error of metabolism - targeted testing not possible v1.76 ATP5D Sarah Leigh gene: ATP5D was added
gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Likely inborn error of metabolism - targeted testing not possible v1.75 STAT2 Sarah Leigh 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.
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
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.
Likely inborn error of metabolism - targeted testing not possible v1.47 CAT Ivone Leong Source NHS GMS was added to CAT.
Source London North GLH was added to CAT.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCAT2 Ivone Leong Source NHS GMS was added to BCAT2.
Source London North GLH was added to BCAT2.
Likely inborn error of metabolism - targeted testing not possible v1.47 BCAT1 Ivone Leong Source NHS GMS was added to BCAT1.
Source London North GLH was added to BCAT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ACAT1 Ivone Leong Source NHS GMS was added to ACAT1.
Source London North GLH was added to ACAT1.
Likely inborn error of metabolism - targeted testing not possible v1.18 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
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
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
Likely inborn error of metabolism - targeted testing not possible v0.12 C1QBP Sarah Leigh gene: C1QBP was added
gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33 617713
Review for gene: C1QBP was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Sources: Literature, Expert Review
Likely inborn error of metabolism - targeted testing not possible v0.4 ISCA-37440-Loss Ellen McDonagh Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay
Likely inborn error of metabolism - targeted testing not possible v0.4 TRAP1 Ellen McDonagh gene: TRAP1 was added
gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRAP1 was set to Unknown
Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA4 Ellen McDonagh gene: NDUFA4 was added
gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFA4 was set to Unknown
Publications for gene: NDUFA4 were set to PMID: 23746447
Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype
Likely inborn error of metabolism - targeted testing not possible v0.4 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 27604308
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5
Likely inborn error of metabolism - targeted testing not possible v0.4 STS Ellen McDonagh gene: STS was added
gene: STS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STS were set to 27604308
Phenotypes for gene: STS were set to X-linked ichthyosis (Other disorders in the metabolism of sterols); Autosomal recessive congenital ichthyosis
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A2 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIm 300896 for gene: SLC35A2
Publications for gene SLC35A2 were changed from 27604308 to 27743886; 25778940; 23561849
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A2 Ellen McDonagh gene: SLC35A2 was added
gene: SLC35A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SLC35A2 were set to 27604308
Phenotypes for gene: SLC35A2 were set to Intellectual disability; SLC35A2-CDG (other congenital disorders of glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PRPS1 were set to 27604308
Phenotypes for gene: PRPS1 were set to Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK3 Ellen McDonagh Added phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK3
Publications for gene PDK3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDHA1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-alpha deficiency, 312170; Leigh syndrome, X-linked, 308930 for gene: PDHA1
Publications for gene PDHA1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 OTC Ellen McDonagh gene: OTC was added
gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OTC were set to 27604308
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 NSDHL Ellen McDonagh gene: NSDHL was added
gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 27604308
Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR
Likely inborn error of metabolism - targeted testing not possible v0.4 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to Danon disease
Likely inborn error of metabolism - targeted testing not possible v0.4 HSD17B10 Ellen McDonagh gene: HSD17B10 was added
gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HSD17B10 were set to 27604308
Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v0.4 HCCS Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies 1; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Microphthalmia, syndromic 7, 309801 for gene: HCCS
Publications for gene HCCS were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry Disease; Fabry disease (Sphingolipidoses); Fabry disease, 301500
Likely inborn error of metabolism - targeted testing not possible v0.4 GK Ellen McDonagh gene: GK was added
gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GK were set to 27604308
Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v0.4 EBP Ellen McDonagh gene: EBP was added
gene: EBP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 27604308
Phenotypes for gene: EBP were set to MEND syndrome 300960 XLR; Chondrodysplasia punctata, X-linked dominant 302960 XLD; X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 COX7B Ellen McDonagh Added phenotypes Linear skin defects with multiple congenital anomalies; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS for gene: COX7B
Publications for gene COX7B were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG13 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13
Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG13 Ellen McDonagh gene: ALG13 was added
gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ALG13 were set to 27604308
Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALAS2 Ellen McDonagh gene: ALAS2 was added
gene: ALAS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ALAS2 were set to 27604308
Phenotypes for gene: ALAS2 were set to Erythropoietic protoporphyria, mild variant; X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity); X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCD1 Ellen McDonagh gene: ABCD1 was added
gene: ABCD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ABCD1 were set to 27604308
Phenotypes for gene: ABCD1 were set to X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation); Adrenoleukodystrophy 300100
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCB7 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7
Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCB7 Ellen McDonagh gene: ABCB7 was added
gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ABCB7 were set to PMID: 26242992; 17192398; 22398176
Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis
Likely inborn error of metabolism - targeted testing not possible v0.4 TIMM8A Ellen McDonagh Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A
Publications for gene TIMM8A were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TAZ Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Disorders of mitochondrial lipid metabolism for gene: TAZ
Publications for gene TAZ were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SSR4 Ellen McDonagh gene: SSR4 was added
gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SSR4 were set to 26264460
Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC6A8 Ellen McDonagh gene: SLC6A8 was added
gene: SLC6A8 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308
Phenotypes for gene: SLC6A8 were set to Intellectual disability; Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 RPL10 Ellen McDonagh gene: RPL10 was added
gene: RPL10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGA Ellen McDonagh Added phenotypes PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 for gene: PIGA
Publications for gene PIGA were changed from 25885527 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGA Ellen McDonagh gene: PIGA was added
gene: PIGA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 25885527
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868; PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 PHKA2 Ellen McDonagh gene: PHKA2 was added
gene: PHKA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA2 were set to 27604308
Phenotypes for gene: PHKA2 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease, type IXa2, 306000; Glycogen storage disease, type IXa1, 306000; hepatomegaly and mild hypoglycaemia; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHKA1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 27604308
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 OCRL Ellen McDonagh gene: OCRL was added
gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 27604308
Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Likely inborn error of metabolism - targeted testing not possible v0.4 MAOA Ellen McDonagh gene: MAOA was added
gene: MAOA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAOA were set to 27604308
Phenotypes for gene: MAOA were set to Brunner syndrome
Likely inborn error of metabolism - targeted testing not possible v0.4 MAGT1 Ellen McDonagh Added phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) for gene: MAGT1
Publications for gene MAGT1 were changed from 27604308 to 27604308; 27393411
Likely inborn error of metabolism - targeted testing not possible v0.4 MAGT1 Ellen McDonagh gene: MAGT1 was added
gene: MAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 27604308
Phenotypes for gene: MAGT1 were set to Combined B and T cell defect; IAP-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 IDS Ellen McDonagh gene: IDS was added
gene: IDS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2; MPS II, Hunter disease (Mucopolysaccharidoses); Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II
Likely inborn error of metabolism - targeted testing not possible v0.4 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HPRT1 were set to 27604308
Phenotypes for gene: HPRT1 were set to HPRT-related gout
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP6AP1 Ellen McDonagh Added phenotypes Immunodeficiency 47 for gene: ATP6AP1
Publications for gene ATP6AP1 were changed from to 27231034
Likely inborn error of metabolism - targeted testing not possible v0.4 AIFM1 Ellen McDonagh Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1
Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327
Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816
Likely inborn error of metabolism - targeted testing not possible v0.4 USF1 Ellen McDonagh gene: USF1 was added
gene: USF1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: USF1 was set to Unknown
Publications for gene: USF1 were set to 27604308
Phenotypes for gene: USF1 were set to Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 TREH Ellen McDonagh gene: TREH was added
gene: TREH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TREH was set to Unknown
Publications for gene: TREH were set to 27604308
Phenotypes for gene: TREH were set to Trehalase deficiency (Other carbohydrate disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 TDO2 Ellen McDonagh gene: TDO2 was added
gene: TDO2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TDO2 was set to Unknown
Publications for gene: TDO2 were set to 27604308
Phenotypes for gene: TDO2 were set to No OMIM number; Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TARS2 Ellen McDonagh gene: TARS2 was added
gene: TARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TARS2 was set to Unknown
Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither.
Phenotypes for gene: TARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918
Likely inborn error of metabolism - targeted testing not possible v0.4 SUCLG2 Ellen McDonagh gene: SUCLG2 was added
gene: SUCLG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SUCLG2 was set to Unknown
Publications for gene: SUCLG2 were set to 27604308
Phenotypes for gene: SUCLG2 were set to Succinyl-CoA synthetase deficiency (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A2 Ellen McDonagh gene: SLC25A2 was added
gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A2 was set to Unknown
Publications for gene: SLC25A2 were set to 27604308
Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC22A4 Ellen McDonagh gene: SLC22A4 was added
gene: SLC22A4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC22A4 was set to Unknown
Publications for gene: SLC22A4 were set to 24816252
Likely inborn error of metabolism - targeted testing not possible v0.4 PTPRZ1 Ellen McDonagh gene: PTPRZ1 was added
gene: PTPRZ1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PTPRZ1 was set to Unknown
Publications for gene: PTPRZ1 were set to 27604308
Phenotypes for gene: PTPRZ1 were set to Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism); {H. pylori infection, susceptibility to} 600263
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX11A Ellen McDonagh gene: PEX11A was added
gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PEX11A was set to Unknown
Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773
Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect
Likely inborn error of metabolism - targeted testing not possible v0.4 PDXK Ellen McDonagh gene: PDXK was added
gene: PDXK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDXK was set to Unknown
Publications for gene: PDXK were set to 27604308
Phenotypes for gene: PDXK were set to Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK4 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK4
Publications for gene PDK4 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK2 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK2
Publications for gene PDK2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK1
Publications for gene PDK1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 OGDH Ellen McDonagh gene: OGDH was added
gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: OGDH was set to Unknown
Publications for gene: OGDH were set to 27604308
Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740
Likely inborn error of metabolism - targeted testing not possible v0.4 NT5C Ellen McDonagh gene: NT5C was added
gene: NT5C was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NT5C was set to Unknown
Publications for gene: NT5C were set to 27604308
Phenotypes for gene: NT5C were set to Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 HYKK Ellen McDonagh gene: HYKK was added
gene: HYKK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HYKK was set to Unknown
Publications for gene: HYKK were set to 27604308
Phenotypes for gene: HYKK were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GLS Ellen McDonagh gene: GLS was added
gene: GLS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GLS was set to Unknown
Publications for gene: GLS were set to 27604308
Phenotypes for gene: GLS were set to Glucosidase 1 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 GGT1 Ellen McDonagh gene: GGT1 was added
gene: GGT1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GGT1 was set to Unknown
Publications for gene: GGT1 were set to 27604308; 24816252
Phenotypes for gene: GGT1 were set to Gamma-glutamyl transpeptidase deficiency; Glutathionuria (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism - targeted testing not possible v0.4 FOLR3 Ellen McDonagh gene: FOLR3 was added
gene: FOLR3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FOLR3 was set to Unknown
Publications for gene: FOLR3 were set to 8110752
Likely inborn error of metabolism - targeted testing not possible v0.4 FOLR2 Ellen McDonagh gene: FOLR2 was added
gene: FOLR2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FOLR2 was set to Unknown
Publications for gene: FOLR2 were set to 14711912; 19587340
Likely inborn error of metabolism - targeted testing not possible v0.4 DPEP1 Ellen McDonagh gene: DPEP1 was added
gene: DPEP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DPEP1 was set to Unknown
Publications for gene: DPEP1 were set to 27604308
Phenotypes for gene: DPEP1 were set to Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism - targeted testing not possible v0.4 DMGDH Ellen McDonagh gene: DMGDH was added
gene: DMGDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DMGDH was set to Unknown
Publications for gene: DMGDH were set to 27604308; 18937046 - functional study expressing the variant form in E.coli showed a decrease in activity; 11231903 - case study
Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency 605850; Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Likely inborn error of metabolism - targeted testing not possible v0.4 DLST Ellen McDonagh gene: DLST was added
gene: DLST was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DLST was set to Unknown
Publications for gene: DLST were set to 27604308; 12805207; 1943690
Likely inborn error of metabolism - targeted testing not possible v0.4 DHFR2 Ellen McDonagh gene: DHFR2 was added
gene: DHFR2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DHFR2 was set to Unknown
Publications for gene: DHFR2 were set to 21876184
Likely inborn error of metabolism - targeted testing not possible v0.4 CNDP1 Ellen McDonagh gene: CNDP1 was added
gene: CNDP1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CNDP1 was set to Unknown
Publications for gene: CNDP1 were set to 27604308
Phenotypes for gene: CNDP1 were set to Carnosinaemia (Other disorders of peptide metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 CLPS Ellen McDonagh gene: CLPS was added
gene: CLPS was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CLPS was set to Unknown
Publications for gene: CLPS were set to 27604308
Phenotypes for gene: CLPS were set to Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 CD320 Ellen McDonagh gene: CD320 was added
gene: CD320 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CD320 was set to Unknown
Publications for gene: CD320 were set to 27604308; 20524213
Phenotypes for gene: CD320 were set to Methylmalonic aciduria due to transcobalamin receptor defect
Likely inborn error of metabolism - targeted testing not possible v0.4 BCAT2 Ellen McDonagh gene: BCAT2 was added
gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BCAT2 was set to Unknown
Publications for gene: BCAT2 were set to 27604308
Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism - targeted testing not possible v0.4 BCAT1 Ellen McDonagh gene: BCAT1 was added
gene: BCAT1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: BCAT1 was set to Unknown
Publications for gene: BCAT1 were set to 27604308
Phenotypes for gene: BCAT1 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5E Ellen McDonagh Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 for gene: ATP5E
Publications for gene ATP5E were changed from 27604308 to PMID: 20566710
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5E Ellen McDonagh gene: ATP5E was added
gene: ATP5E was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5E was set to Unknown
Publications for gene: ATP5E were set to 27604308
Phenotypes for gene: ATP5E were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v0.4 ARSG Ellen McDonagh gene: ARSG was added
gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ARSG was set to Unknown
Publications for gene: ARSG were set to 26975023; 20679209; 25452429
Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis
Likely inborn error of metabolism - targeted testing not possible v0.4 AOX1 Ellen McDonagh gene: AOX1 was added
gene: AOX1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AOX1 was set to Unknown
Publications for gene: AOX1 were set to 27604308
Phenotypes for gene: AOX1 were set to Xanthinuria type II (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCG2 Ellen McDonagh gene: ABCG2 was added
gene: ABCG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ABCG2 was set to Unknown
Publications for gene: ABCG2 were set to 27604308
Phenotypes for gene: ABCG2 were set to Primary idiopathic gout (Disorders of purine metabolism); [Junior blood group system] 614490; [Uric acid concentration, serum, QTL1] 138900
Likely inborn error of metabolism - targeted testing not possible v0.4 C1GALT1C1 Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments
Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1
Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663
Likely inborn error of metabolism - targeted testing not possible v0.4 C1GALT1C1 Ellen McDonagh gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments
Publications for gene: C1GALT1C1 were set to 27604308
Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic
Likely inborn error of metabolism - targeted testing not possible v0.4 UMOD Ellen McDonagh gene: UMOD was added
gene: UMOD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 27604308
Phenotypes for gene: UMOD were set to Cystic kidney disease; Unexplained kidney failure in young people; Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 27604308
Phenotypes for gene: SPTLC2 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC52A1 were set to 21089064
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency 615026
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC40A1 were set to 27604308; 11518736; 11431687; 10471458
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069 (Disorder of iron metabolism); Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHC were set to 27604308
Phenotypes for gene: SDHC were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours
Likely inborn error of metabolism - targeted testing not possible v0.4 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 194200
Likely inborn error of metabolism - targeted testing not possible v0.4 PCSK9 Ellen McDonagh gene: PCSK9 was added
gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCSK9 were set to 27604308
Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 LIPI Ellen McDonagh gene: LIPI was added
gene: LIPI was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIPI were set to 27604308
Phenotypes for gene: LIPI were set to {Hypertriglyceridemia, susceptibility to}, 145750; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 LDLR Ellen McDonagh gene: LDLR was added
gene: LDLR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDLR were set to 27604308
Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMBS were set to 27604308
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000
Likely inborn error of metabolism - targeted testing not possible v0.4 HAL Ellen McDonagh gene: HAL was added
gene: HAL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAL were set to 27604308
Phenotypes for gene: HAL were set to Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GLUD1 Ellen McDonagh gene: GLUD1 was added
gene: GLUD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 27604308
Phenotypes for gene: GLUD1 were set to Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias); Hyperinsulinism-hyperammonemia syndrome, 606762
Likely inborn error of metabolism - targeted testing not possible v0.4 GALNT12 Ellen McDonagh gene: GALNT12 was added
gene: GALNT12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GALNT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GALNT12 were set to 27604308
Phenotypes for gene: GALNT12 were set to GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); {Colorectal cancer, susceptibility to, 1} 608812
Likely inborn error of metabolism - targeted testing not possible v0.4 GABRG2 Ellen McDonagh gene: GABRG2 was added
gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642
Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681
Likely inborn error of metabolism - targeted testing not possible v0.4 DNAJC5 Ellen McDonagh gene: DNAJC5 was added
gene: DNAJC5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Likely inborn error of metabolism - targeted testing not possible v0.4 CYCS Ellen McDonagh gene: CYCS was added
gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; PMID: 18345000
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004
Likely inborn error of metabolism - targeted testing not possible v0.4 CETP Ellen McDonagh gene: CETP was added
gene: CETP was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CETP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CETP were set to 27604308
Phenotypes for gene: CETP were set to [High density lipoprotein cholesterol level QTL 10] 143470; Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism); Hyperalphalipoproteinemia 143470
Likely inborn error of metabolism - targeted testing not possible v0.4 ATXN7 Ellen McDonagh gene: ATXN7 was added
gene: ATXN7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN7 were set to 27604308
Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 164500; Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 APOB Ellen McDonagh gene: APOB was added
gene: APOB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOB were set to 27604308
Phenotypes for gene: APOB were set to Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism - targeted testing not possible v0.4 UROD Ellen McDonagh gene: UROD was added
gene: UROD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UROD were set to 27604308
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Likely inborn error of metabolism - targeted testing not possible v0.4 TM6SF2 Ellen McDonagh gene: TM6SF2 was added
gene: TM6SF2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TM6SF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TM6SF2 were set to 28235613
Phenotypes for gene: TM6SF2 were set to non-alcoholic fatty liver disease
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF2 Ellen McDonagh gene: SDHAF2 was added
gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SDHAF2 were set to 27604308
Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 RANBP2 Ellen McDonagh gene: RANBP2 was added
gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RANBP2 were set to 27604308
Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 POLG2 Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions for gene: POLG2
Publications for gene POLG2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 IDH2 Ellen McDonagh gene: IDH2 was added
gene: IDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH2 were set to 24049096; 20847235
Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2, 613657
Likely inborn error of metabolism - targeted testing not possible v0.4 FXYD2 Ellen McDonagh gene: FXYD2 was added
gene: FXYD2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FXYD2 were set to 27604308
Phenotypes for gene: FXYD2 were set to Hypomagnesemia 2, renal 154020; Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY
Likely inborn error of metabolism - targeted testing not possible v0.4 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27604308
Phenotypes for gene: WFS1 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Likely inborn error of metabolism - targeted testing not possible v0.4 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 27604308
Phenotypes for gene: TWNK were set to Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA Depletion Syndrome (biallelic); Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
Likely inborn error of metabolism - targeted testing not possible v0.4 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 27604308
Phenotypes for gene: TREX1 were set to Intellectual disability; Familial cerebral small vessel disease; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1; Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPTLC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTLC1 were set to 27604308
Phenotypes for gene: SPTLC1 were set to Charcot-Marie-Tooth disease; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis); Familial dysautonomia
Likely inborn error of metabolism - targeted testing not possible v0.4 SPG7 Ellen McDonagh Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7
Publications for gene SPG7 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC6A20 Ellen McDonagh gene: SLC6A20 was added
gene: SLC6A20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC6A19 Ellen McDonagh gene: SLC6A19 was added
gene: SLC6A19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424
Phenotypes for gene: SLC6A19 were set to Iminoglycinuria, digenic; Hartnup disorder AD
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC36A2 Ellen McDonagh gene: SLC36A2 was added
gene: SLC36A2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 27604308; 19033659
Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic 242600; Hyperglycinuria 138500; Hyperglycinuria AR
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 27604308
Phenotypes for gene: SLC2A1 were set to Intellectual disability; Early onset dystonia; Cataracts; Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport); Hereditary ataxia; Epileptic encephalopathy; Familial Genetic Generalised Epilepsies
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC16A1 Ellen McDonagh gene: SLC16A1 was added
gene: SLC16A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC16A1 were set to 26608392; 17701893
Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7; mainly ketosis with borderline reduction in glucose
Likely inborn error of metabolism - targeted testing not possible v0.4 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SETX were set to 27604308
Phenotypes for gene: SETX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease; Hereditary ataxia; Amyotrophic lateral sclerosis/motor neuron disease
Likely inborn error of metabolism - targeted testing not possible v0.4 SEC23B Ellen McDonagh Added phenotypes Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) for gene: SEC23B
Publications for gene SEC23B were changed from 27604308 to 22208203
Likely inborn error of metabolism - targeted testing not possible v0.4 SEC23B Ellen McDonagh gene: SEC23B was added
gene: SEC23B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 27604308
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 SCARB1 Ellen McDonagh gene: SCARB1 was added
gene: SCARB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCARB1 were set to 27604308
Phenotypes for gene: SCARB1 were set to [High density lipoprotein cholesterol level QTL6] 610762; Scavenger receptor class B type I deficiency (Inherited hypolipidaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 27604308
Phenotypes for gene: RRM2B were set to 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive); Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism); Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
Likely inborn error of metabolism - targeted testing not possible v0.4 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 27604308
Phenotypes for gene: RBP4 were set to Retinol binding protein deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities
Likely inborn error of metabolism - targeted testing not possible v0.4 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 27604308; 19460837; 9811936
Phenotypes for gene: PPOX were set to Porphyria variegata 176200; Variegate porphyria (Acute neuropathic porphyrias)
Likely inborn error of metabolism - targeted testing not possible v0.4 POLG Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive, 258450; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA Depletion Syndrome; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 for gene: POLG
Publications for gene POLG were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 OPLAH Ellen McDonagh gene: OPLAH was added
gene: OPLAH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27604308
Phenotypes for gene: OPLAH were set to Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005
Likely inborn error of metabolism - targeted testing not possible v0.4 OPA3 Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3
Publications for gene OPA3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Likely inborn error of metabolism - targeted testing not possible v0.4 MFN2 Ellen McDonagh Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Hereditary motor and sensory neuropathy VI, 601152 for gene: MFN2
Publications for gene MFN2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 27604308
Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 LPL Ellen McDonagh gene: LPL was added
gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LPL were set to 27604308
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 LBR Ellen McDonagh gene: LBR was added
gene: LBR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LBR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LBR were set to 27604308
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops
Likely inborn error of metabolism - targeted testing not possible v0.4 HPD Ellen McDonagh gene: HPD was added
gene: HPD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HPD were set to 27604308
Phenotypes for gene: HPD were set to Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GPHN Ellen McDonagh gene: GPHN was added
gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy
Likely inborn error of metabolism - targeted testing not possible v0.4 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 27604308
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Likely inborn error of metabolism - targeted testing not possible v0.4 FGFR2 Ellen McDonagh gene: FGFR2 was added
gene: FGFR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGFR2 were set to 27604308
Phenotypes for gene: FGFR2 were set to Bilateral microtia; Deafness and congenital structural abnormalities; Craniosynostosis syndromes phenotypes; Arthrogryposis; Choanal atresia; Antley-Bixler syndrome type without disordered steroidogenesis; Unexplained skeletal dysplasia
Likely inborn error of metabolism - targeted testing not possible v0.4 EXT2 Ellen McDonagh Added phenotypes Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); ?Seizures, scoliosis, and macrocephaly syndrome 616682 for gene: EXT2
Publications for gene EXT2 were changed from 27604308 to 12417417
Likely inborn error of metabolism - targeted testing not possible v0.4 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EXT2 were set to 27604308
Phenotypes for gene: EXT2 were set to Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 2 133701; ?Seizures, scoliosis, and macrocephaly syndrome 616682
Likely inborn error of metabolism - targeted testing not possible v0.4 DNM1L Ellen McDonagh Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L
Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DNM1L Ellen McDonagh gene: DNM1L was added
gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM1L were set to 17460227; PMID: 26825290
Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Likely inborn error of metabolism - targeted testing not possible v0.4 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 27604308
Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CPOX were set to 27604308
Phenotypes for gene: CPOX were set to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Likely inborn error of metabolism - targeted testing not possible v0.4 CNNM2 Ellen McDonagh gene: CNNM2 was added
gene: CNNM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 27604308
Phenotypes for gene: CNNM2 were set to Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism); Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418
Likely inborn error of metabolism - targeted testing not possible v0.4 CAT Ellen McDonagh gene: CAT was added
gene: CAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CAT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CAT were set to 27604308
Phenotypes for gene: CAT were set to Acatalasaemia (Other peroxisomal disorders); Acatalasemia, 614097
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP8B1 Ellen McDonagh gene: ATP8B1 was added
gene: ATP8B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 27604308
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 211600; Cholestasis, benign recurrent intrahepatic 243300 AR; Cholestasis, intrahepatic, of pregnancy, 1 147480 AD; Byler disease (Disorders of bile acid metabolism and transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 ATAD3A Ellen McDonagh gene: ATAD3A was added
gene: ATAD3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183
Likely inborn error of metabolism - targeted testing not possible v0.4 APOE Ellen McDonagh gene: APOE was added
gene: APOE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOE were set to 27604308; 24816252
Phenotypes for gene: APOE were set to Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias); Hyperlipoproteinemia, type III 617347; Sea-blue histiocyte disease 269600; Lipoprotein glomerulopathy 611771
Likely inborn error of metabolism - targeted testing not possible v0.4 APOA5 Ellen McDonagh gene: APOA5 was added
gene: APOA5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA5 were set to 27604308
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650; Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias); {Hypertriglyceridemia, susceptibility to} 145750
Likely inborn error of metabolism - targeted testing not possible v0.4 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA1 were set to 27604308
Phenotypes for gene: APOA1 were set to Corneal clouding, autosomal recessive; Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism); ApoA-I and apoC-III deficiency, combined; Amyloidosis, 3 or more types 105200; Hypoalphalipoproteinemia 604091
Likely inborn error of metabolism - targeted testing not possible v0.4 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 27604308; 12916015; 23001123
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCB4 Ellen McDonagh gene: ABCB4 was added
gene: ABCB4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 27604308
Phenotypes for gene: ABCB4 were set to Gallbladder disease 1 600803 AD, AR; Cholestasis, progressive familial intrahepatic 3 602347 AR; Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport); Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
Likely inborn error of metabolism - targeted testing not possible v0.4 VKORC1 Ellen McDonagh gene: VKORC1 was added
gene: VKORC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 27604308
Phenotypes for gene: VKORC1 were set to Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors); Inherited bleeding disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC7A9 Ellen McDonagh gene: SLC7A9 was added
gene: SLC7A9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 27604308; 24816252
Phenotypes for gene: SLC7A9 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC3A1 Ellen McDonagh gene: SLC3A1 was added
gene: SLC3A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 27604308
Phenotypes for gene: SLC3A1 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Cystinuria (Disorders of amino acid transport); Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 OPA1 Ellen McDonagh Added phenotypes Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: OPA1
Publications for gene OPA1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 HSPD1 Ellen McDonagh Added phenotypes Leukodystrophy, hypomyelinating, 4, 612233; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Publications for gene HSPD1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GDAP1 Ellen McDonagh Added phenotypes Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K for gene: GDAP1
Publications for gene GDAP1 were changed from 11743579 to PMID: 11743579
Likely inborn error of metabolism - targeted testing not possible v0.4 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 11743579
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, axonal, type 2K
Likely inborn error of metabolism - targeted testing not possible v0.4 ALPL Ellen McDonagh gene: ALPL was added
gene: ALPL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPL were set to 27604308
Phenotypes for gene: ALPL were set to Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 AFG3L2 Ellen McDonagh Added phenotypes Ataxia, spastic, 5, autosomal recessive, 614487; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity for gene: AFG3L2
Publications for gene AFG3L2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 YARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Publications for gene YARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 XYLT2 Ellen McDonagh gene: XYLT2 was added
gene: XYLT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome
Likely inborn error of metabolism - targeted testing not possible v0.4 XYLT1 Ellen McDonagh gene: XYLT1 was added
gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT1 were set to 23982343; 24581741
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2
Likely inborn error of metabolism - targeted testing not possible v0.4 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to PMID: 20179356
Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy
Likely inborn error of metabolism - targeted testing not possible v0.4 XDH Ellen McDonagh gene: XDH was added
gene: XDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 27604308
Phenotypes for gene: XDH were set to Xanthinuria type II (Disorders of purine metabolism); Xanthinuria type I (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 27604308
Phenotypes for gene: VPS33B were set to Inherited bleeding disorders; Unexplained kidney failure in young people; CAKUT; ARC Syndrome (Other metabolic disorders); Arthrogryposis
Likely inborn error of metabolism - targeted testing not possible v0.4 VIPAS39 Ellen McDonagh gene: VIPAS39 was added
gene: VIPAS39 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 27604308
Phenotypes for gene: VIPAS39 were set to Inherited bleeding disorders; ARC Syndrome (Other metabolic disorders); Arthrogryposis
Likely inborn error of metabolism - targeted testing not possible v0.4 UROS Ellen McDonagh gene: UROS was added
gene: UROS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 27604308
Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700
Likely inborn error of metabolism - targeted testing not possible v0.4 UROC1 Ellen McDonagh gene: UROC1 was added
gene: UROC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 27604308
Phenotypes for gene: UROC1 were set to Intellectual disability; Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 UQCRQ Ellen McDonagh gene: UQCRQ was added
gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRQ were set to 27604308
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 UQCRB Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: UQCRB
Publications for gene UQCRB were changed from PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 UQCRB Ellen McDonagh gene: UQCRB was added
gene: UQCRB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study)
Phenotypes for gene: UQCRB were set to Mitochondrial Diseases; Mitochondrial complex III deficiency, nuclear type 3, 615158; Isolated complex III deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 UPB1 Ellen McDonagh gene: UPB1 was added
gene: UPB1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 27604308
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism); Beta-ureidopropionase deficiency 613161
Likely inborn error of metabolism - targeted testing not possible v0.4 UMPS Ellen McDonagh gene: UMPS was added
gene: UMPS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 27604308; 9042911
Phenotypes for gene: UMPS were set to Intellectual disability; Orotic aciduria; Orotic aciduria (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 UGT1A1 Ellen McDonagh gene: UGT1A1 was added
gene: UGT1A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 27604308; 24816252
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I 218800; Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type II 606785
Likely inborn error of metabolism - targeted testing not possible v0.4 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 27604308; 24816252
Phenotypes for gene: TYMP were set to Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Likely inborn error of metabolism - targeted testing not possible v0.4 TXN2 Ellen McDonagh gene: TXN2 was added
gene: TXN2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXN2 were set to PMID: 26626369
Phenotypes for gene: TXN2 were set to infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy; ?Combined oxidative phosphorylation deficiency 29
Likely inborn error of metabolism - targeted testing not possible v0.4 TUSC3 Ellen McDonagh Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3
Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TUSC3 Ellen McDonagh gene: TUSC3 was added
gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7
Likely inborn error of metabolism - targeted testing not possible v0.4 TUFM Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM
Publications for gene TUFM were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308
Phenotypes for gene: TTPA were set to TTP1 deficiency (Other disorders of vitamins and cofactors); Hereditary ataxia
Likely inborn error of metabolism - targeted testing not possible v0.4 TTC37 Ellen McDonagh gene: TTC37 was added
gene: TTC37 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 27604308
Phenotypes for gene: TTC37 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 TTC19 Ellen McDonagh Added phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19
Publications for gene TTC19 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TSFM Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM
Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308; 25037205; 17033963
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505
Likely inborn error of metabolism - targeted testing not possible v0.4 TRPM6 Ellen McDonagh gene: TRPM6 was added
gene: TRPM6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 27604308; 23942199; 12032570
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal 602014; Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TRNT1 Ellen McDonagh Added phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis for gene: TRNT1
Publications for gene TRNT1 were changed from PMID: 26494905; PMID: 25652405 to 25652405; 26494905
Likely inborn error of metabolism - targeted testing not possible v0.4 TRNT1 Ellen McDonagh gene: TRNT1 was added
gene: TRNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to PMID: 26494905; PMID: 25652405
Phenotypes for gene: TRNT1 were set to congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis
Likely inborn error of metabolism - targeted testing not possible v0.4 TRMU Ellen McDonagh Added phenotypes {Deafness, mitochondrial, modifier of}, 580000; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Liver failure, transient infantile, 613070 for gene: TRMU
Publications for gene TRMU were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TRMT5 Ellen McDonagh gene: TRMT5 was added
gene: TRMT5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT5 were set to PMID: 26189817
Phenotypes for gene: TRMT5 were set to Multiple Respiratory-Chain Deficiencies
Likely inborn error of metabolism - targeted testing not possible v0.4 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM37 were set to 27604308
Phenotypes for gene: TRIM37 were set to Mulibrey nanism (Other peroxisomal disorders); Mulibrey nanism
Likely inborn error of metabolism - targeted testing not possible v0.4 TRAPPC11 Ellen McDonagh gene: TRAPPC11 was added
gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518; 26912795
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S
Likely inborn error of metabolism - targeted testing not possible v0.4 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP1 were set to 27604308
Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia
Likely inborn error of metabolism - targeted testing not possible v0.4 TPMT Ellen McDonagh gene: TPMT was added
gene: TPMT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPMT were set to 27604308
Phenotypes for gene: TPMT were set to Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism); {Thiopurines, poor metabolism of, 1} 610460
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM70 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex V deficiency; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: TMEM70
Publications for gene TMEM70 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM5 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 for gene: TMEM5
Publications for gene TMEM5 were changed from to 27212206
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM199 Ellen McDonagh gene: TMEM199 was added
gene: TMEM199 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM199 were set to 26833330
Phenotypes for gene: TMEM199 were set to Congenital disorder of glycosylation, type IIp 616829
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM165 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIk 614727; CDG2K (other congenital disorders of glycosylation) for gene: TMEM165
Publications for gene TMEM165 were changed from 22683087; 27401145 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM165 Ellen McDonagh gene: TMEM165 was added
gene: TMEM165 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087; 27401145
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM126B Ellen McDonagh gene: TMEM126B was added
gene: TMEM126B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374774
Phenotypes for gene: TMEM126B were set to Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 TMEM126A Ellen McDonagh gene: TMEM126A was added
gene: TMEM126A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 27604308
Phenotypes for gene: TMEM126A were set to Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy 7; 612989
Likely inborn error of metabolism - targeted testing not possible v0.4 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 27604308
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TH Ellen McDonagh gene: TH was added
gene: TH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 27604308
Phenotypes for gene: TH were set to Intellectual disability; Early onset dystonia; Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism - targeted testing not possible v0.4 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 27604308
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250; Hereditary haemochromatosis Type 3 (Disorder of iron metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TCN2 Ellen McDonagh gene: TCN2 was added
gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 27604308
Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TCN1 Ellen McDonagh gene: TCN1 was added
gene: TCN1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: TCN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN1 were set to 27604308
Phenotypes for gene: TCN1 were set to Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism); No OMIM number
Likely inborn error of metabolism - targeted testing not possible v0.4 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 27604308
Phenotypes for gene: TAT were set to Intellectual disability; Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 TANGO2 Ellen McDonagh gene: TANGO2 was added
gene: TANGO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 26805781
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Likely inborn error of metabolism - targeted testing not possible v0.4 TALDO1 Ellen McDonagh gene: TALDO1 was added
gene: TALDO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TALDO1 were set to 15877206; 26238251; 21119539; 11283793; 17095351; 27604308; 18331807; 23315216
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 TACO1 Ellen McDonagh gene: TACO1 was added
gene: TACO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACO1 were set to 27604308
Phenotypes for gene: TACO1 were set to Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 SURF1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1
Publications for gene SURF1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 27604308; 27289259; 12112661
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 SUMF1 Ellen McDonagh gene: SUMF1 was added
gene: SUMF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 27604308
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 SUGCT Ellen McDonagh gene: SUGCT was added
gene: SUGCT was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUGCT were set to 27604308
Phenotypes for gene: SUGCT were set to Glutaric aciduria type III (Organic acidurias); Glutaric aciduria type III 231690
Likely inborn error of metabolism - targeted testing not possible v0.4 SUCLG1 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SUCLG1
Publications for gene SUCLG1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 27604308
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 STT3A Ellen McDonagh gene: STT3A was added
gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 23842455
Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596
Likely inborn error of metabolism - targeted testing not possible v0.4 STAT2 Ellen McDonagh gene: STAT2 was added
gene: STAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT2 were set to PMID: 26122121
Phenotypes for gene: STAT2 were set to elongated mitochondria; severe neurological deterioration following viral infection
Likely inborn error of metabolism - targeted testing not possible v0.4 ST3GAL5 Ellen McDonagh Added phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056 for gene: ST3GAL5
Publications for gene ST3GAL5 were changed from 27604308 to 24026681; 15502825
Likely inborn error of metabolism - targeted testing not possible v0.4 ST3GAL5 Ellen McDonagh gene: ST3GAL5 was added
gene: ST3GAL5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 27604308
Phenotypes for gene: ST3GAL5 were set to Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency (Disorders of complex lipid synthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 ST3GAL3 Ellen McDonagh Added phenotypes Intellectual disability; ST3GAL3-CDG (Disorders of protein N-glycosylation) for gene: ST3GAL3
Publications for gene ST3GAL3 were changed from 21907012; 23252400 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ST3GAL3 Ellen McDonagh gene: ST3GAL3 was added
gene: ST3GAL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL3 were set to 21907012; 23252400
Phenotypes for gene: ST3GAL3 were set to Epileptic encephalopathy, early infantile, 15 615006; ST3GAL3-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 SRD5A3 Ellen McDonagh Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3
Publications for gene SRD5A3 were changed from 27480077 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SRD5A3 Ellen McDonagh gene: SRD5A3 was added
gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 27480077
Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379
Likely inborn error of metabolism - targeted testing not possible v0.4 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPR were set to 27604308
Phenotypes for gene: SPR were set to Intellectual disability; Early onset dystonia; Sepiapterin reductase deficiency (Disorders of pterin metabolism); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism - targeted testing not possible v0.4 SMPD1 Ellen McDonagh gene: SMPD1 was added
gene: SMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLCO1B3 Ellen McDonagh gene: SLCO1B3 was added
gene: SLCO1B3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO1B3 were set to 22232210
Phenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic
Likely inborn error of metabolism - targeted testing not possible v0.4 SLCO1B1 Ellen McDonagh gene: SLCO1B1 was added
gene: SLCO1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLCO1B1 were set to 24816252; 22232210
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC7A7 Ellen McDonagh gene: SLC7A7 was added
gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 27604308
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to 27604308
Phenotypes for gene: SLC6A3 were set to Intellectual disability; Early onset dystonia; Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC5A1 Ellen McDonagh gene: SLC5A1 was added
gene: SLC5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A1 were set to 27604308
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption (Disorders of glucose transport); Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 27604308
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary; Hereditary folate malabsorption (Disorders of folate metabolism and transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC39A8 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIn 616721 for gene: SLC39A8
Publications for gene SLC39A8 were changed from 27604308 to 26637978; 26637979
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC39A8 Ellen McDonagh gene: SLC39A8 was added
gene: SLC39A8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 27604308
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn 616721; Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC39A4 Ellen McDonagh gene: SLC39A4 was added
gene: SLC39A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC37A4 Ellen McDonagh gene: SLC37A4 was added
gene: SLC37A4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 27604308
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ic, 232240; Glycogen storage disease Ib, 232220; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic; Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35D1 Ellen McDonagh Added phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) for gene: SLC35D1
Publications for gene SLC35D1 were changed from 27604308 to 19508970; 17952091
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35D1 Ellen McDonagh gene: SLC35D1 was added
gene: SLC35D1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 27604308
Phenotypes for gene: SLC35D1 were set to 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35C1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35C1
Publications for gene SLC35C1 were changed from 27604308 to 12476046; 11326280
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35C1 Ellen McDonagh gene: SLC35C1 was added
gene: SLC35C1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 27604308
Phenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A3 Ellen McDonagh gene: SLC35A3 was added
gene: SLC35A3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iif, 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: SLC35A1
Publications for gene SLC35A1 were changed from 23873973; 15576474 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC35A1 Ellen McDonagh gene: SLC35A1 was added
gene: SLC35A1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 23873973; 15576474
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf 603585; CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 27604308
Phenotypes for gene: SLC30A10 were set to Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 27604308
Phenotypes for gene: SLC2A2 were set to Glycogen storage disease type XI (Glycogen storage disorders); Glycogen Storage Disorders- Liver; Glucose transporter 2 deficiency (Disorders of glucose transport); Fanconi-Bickel Syndrome; renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC27A5 Ellen McDonagh gene: SLC27A5 was added
gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A5 were set to 27604308
Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A46 Ellen McDonagh Added phenotypes optic atrophy spectrum disorder for gene: SLC25A46
Publications for gene SLC25A46 were changed from PMID: 26168012 to 26168012
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to PMID: 26168012
Phenotypes for gene: SLC25A46 were set to optic atrophy spectrum disorder
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A38 Ellen McDonagh Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38
Publications for gene SLC25A38 were changed from 27604308 to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A38 Ellen McDonagh gene: SLC25A38 was added
gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 27604308
Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A3 Ellen McDonagh Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3
Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A3 Ellen McDonagh gene: SLC25A3 was added
gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081
Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A26 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26
Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A26 Ellen McDonagh gene: SLC25A26 was added
gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A26 were set to PMID: 26522469
Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A22 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22
Publications for gene SLC25A22 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A20 Ellen McDonagh gene: SLC25A20 was added
gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A19 Ellen McDonagh Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Microcephaly, Amish type (Disorders of thiamine metabolism) for gene: SLC25A19
Publications for gene SLC25A19 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A15 Ellen McDonagh gene: SLC25A15 was added
gene: SLC25A15 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 27604308
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970; HHH syndrome (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A13 Ellen McDonagh gene: SLC25A13 was added
gene: SLC25A13 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 27604308
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471; Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A12 Ellen McDonagh gene: SLC25A12 was added
gene: SLC25A12 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A12 were set to 27604308
Phenotypes for gene: SLC25A12 were set to Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC25A1 Ellen McDonagh gene: SLC25A1 was added
gene: SLC25A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 27604308
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 27604308; 24816252
Phenotypes for gene: SLC22A5 were set to Propionicacidemia; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC19A3 Ellen McDonagh Added phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism); Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 for gene: SLC19A3
Publications for gene SLC19A3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC19A2 Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270; Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) for gene: SLC19A2
Publications for gene SLC19A2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC18A2 Ellen McDonagh gene: SLC18A2 was added
gene: SLC18A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 27604308; 26497564; 23363473
Phenotypes for gene: SLC18A2 were set to Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM)
Likely inborn error of metabolism - targeted testing not possible v0.4 SLC12A3 Ellen McDonagh gene: SLC12A3 was added
gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 27604308
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis
Likely inborn error of metabolism - targeted testing not possible v0.4 SKIV2L Ellen McDonagh gene: SKIV2L was added
gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 27604308
Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 SI Ellen McDonagh gene: SI was added
gene: SI was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SI were set to 27604308; 14724820; 8648527; 16329100
Phenotypes for gene: SI were set to CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 SHPK Ellen McDonagh gene: SHPK was added
gene: SHPK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency (Other metabolic disorders); [Sedoheptulokinase deficiency] 617213
Likely inborn error of metabolism - targeted testing not possible v0.4 SGSH Ellen McDonagh gene: SGSH was added
gene: SGSH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIA; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3A
Likely inborn error of metabolism - targeted testing not possible v0.4 SERAC1 Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Publications for gene SERAC1 were changed from 29205472 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 29205472
Phenotypes for gene: SERAC1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHD were set to 27604308
Phenotypes for gene: SDHD were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex II deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHB Ellen McDonagh Added phenotypes Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB
Publications for gene SDHB were changed from 27604308 to PMID: 26925370; 22972948
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 27604308
Phenotypes for gene: SDHB were set to Mitochondrial Diseases; Gastrointestinal stromal tumor, 606764; Pheochromocytoma, 171300; Paragangliomas 4, 115310; Isolated complex II deficiency; Cowden syndrome 2, 612359; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Paraganglioma and gastric stromal sarcoma, 606864
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 27604308
Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 27604308
Phenotypes for gene: SDHA were set to Paragangliomas 5, 614165; Leigh syndrome, 256000; Cardiomyopathy, dilated, 1GG, 613642; Isolated complex II deficiency; Mitochondrial respiratory chain complex II deficiency, 252011; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex II Deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 27604308
Phenotypes for gene: SCP2 were set to Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 SCO2 Ellen McDonagh gene: SCO2 was added
gene: SCO2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 27604308
Phenotypes for gene: SCO2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908
Likely inborn error of metabolism - targeted testing not possible v0.4 SCO1 Ellen McDonagh gene: SCO1 was added
gene: SCO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO1 were set to 27604308
Phenotypes for gene: SCO1 were set to Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; Hepatic failure, early onset, and neurologic disorder; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 SC5D Ellen McDonagh gene: SC5D was added
gene: SC5D was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SC5D were set to 27604308
Phenotypes for gene: SC5D were set to Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts
Likely inborn error of metabolism - targeted testing not possible v0.4 SARS2 Ellen McDonagh Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SARS2
Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 SARS2 Ellen McDonagh gene: SARS2 was added
gene: SARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to PMID: 21255763; 24034276
Phenotypes for gene: SARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Likely inborn error of metabolism - targeted testing not possible v0.4 SARDH Ellen McDonagh gene: SARDH was added
gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARDH were set to 27604308
Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 SAR1B Ellen McDonagh gene: SAR1B was added
gene: SAR1B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 27604308
Phenotypes for gene: SAR1B were set to Anderson disease (Inherited hypolipidaemias); CHYLOMICRON RETENTION DISEASE 246700
Likely inborn error of metabolism - targeted testing not possible v0.4 SAMHD1 Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1
Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658
Likely inborn error of metabolism - targeted testing not possible v0.4 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 27604308
Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5)
Likely inborn error of metabolism - targeted testing not possible v0.4 SACS Ellen McDonagh Added phenotypes Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) for gene: SACS
Publications for gene SACS were changed from PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study) to 12873855 (18 patients from 4 families); 15985586 (two siblings); 14718706 (two sisters); 16606928 (case study); 10655055 (17 families with 24 patients); 14718708 (two family members)
Likely inborn error of metabolism - targeted testing not possible v0.4 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to PMID: 14718708 (two family members); PMID: 10655055 (17 families with 24 patients); PMID: 15985586 (two siblings); PMID: 14718706 (two sisters); PMID: 12873855 (18 patients from 4 families); PMID: 16606928 (case study)
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type; Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Likely inborn error of metabolism - targeted testing not possible v0.4 RPIA Ellen McDonagh gene: RPIA was added
gene: RPIA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 27604308; 30088433; 14988808; 28801340
Phenotypes for gene: RPIA were set to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611
Likely inborn error of metabolism - targeted testing not possible v0.4 ROBO3 Ellen McDonagh gene: ROBO3 was added
gene: ROBO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 16525029; 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASET2 Ellen McDonagh gene: RNASET2 was added
gene: RNASET2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 27604308
Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 27604308
Phenotypes for gene: RNASEH2C were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3; Intracerebral calcification disorders; Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 27604308
Phenotypes for gene: RNASEH2B were set to Intellectual disability; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2; Intracerebral calcification disorders; Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 27604308
Phenotypes for gene: RNASEH2A were set to Intellectual disability; Intracerebral calcification disorders; (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4; Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 RNASEH1 Ellen McDonagh gene: RNASEH1 was added
gene: RNASEH1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH1 were set to Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193.
Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Likely inborn error of metabolism - targeted testing not possible v0.4 RMND1 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 11, 614922; Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect for gene: RMND1
Publications for gene RMND1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 RFT1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) for gene: RFT1
Publications for gene RFT1 were changed from 23111317 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 RFT1 Ellen McDonagh gene: RFT1 was added
gene: RFT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 23111317
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23889995; 23104095
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Likely inborn error of metabolism - targeted testing not possible v0.4 RARS2 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia, type 6, 611523; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: RARS2
Publications for gene RARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 27604308
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C
Likely inborn error of metabolism - targeted testing not possible v0.4 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGM were set to 27604308
Phenotypes for gene: PYGM were set to Glycogen storage disease type V, McArdle (Glycogen storage disorders); McArdle disease 232600
Likely inborn error of metabolism - targeted testing not possible v0.4 PYGL Ellen McDonagh gene: PYGL was added
gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGL were set to 27604308
Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 PYCR1 Ellen McDonagh gene: PYCR1 was added
gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 27604308
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940
Likely inborn error of metabolism - targeted testing not possible v0.4 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 27604308
Phenotypes for gene: PUS1 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTS were set to 27604308
Phenotypes for gene: PTS were set to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PSPH Ellen McDonagh gene: PSPH was added
gene: PSPH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 27604308; 24816252
Phenotypes for gene: PSPH were set to Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia
Likely inborn error of metabolism - targeted testing not possible v0.4 PSAT1 Ellen McDonagh gene: PSAT1 was added
gene: PSAT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 27604308
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia
Likely inborn error of metabolism - targeted testing not possible v0.4 PSAP Ellen McDonagh gene: PSAP was added
gene: PSAP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAP were set to 27604308
Phenotypes for gene: PSAP were set to Atypical Gaucher disease; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Combined SAP deficiency; Combined SAP deficiency, 611721; Prosaposin deficiency (Sphingolipidoses); Atypical Krabbe disease; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722
Likely inborn error of metabolism - targeted testing not possible v0.4 PRODH Ellen McDonagh gene: PRODH was added
gene: PRODH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH were set to 27604308; 24816252
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Hyperprolinaemia type I (Disorders of ornithine or proline metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PREPL Ellen McDonagh gene: PREPL was added
gene: PREPL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 27604308
Phenotypes for gene: PREPL were set to Hypotonia-cystinuria syndrome 606407; Hypotonia-cystinuria syndrome (Disorders of amino acid transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 27604308
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1
Likely inborn error of metabolism - targeted testing not possible v0.4 PPM1B Ellen McDonagh gene: PPM1B was added
gene: PPM1B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PPM1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1B were set to 27604308; 15913950; 11524703
Phenotypes for gene: PPM1B were set to Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 PPA2 Ellen McDonagh gene: PPA2 was added
gene: PPA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598
Likely inborn error of metabolism - targeted testing not possible v0.4 POR Ellen McDonagh gene: POR was added
gene: POR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27604308
Phenotypes for gene: POR were set to Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes
Likely inborn error of metabolism - targeted testing not possible v0.4 POMT2 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 for gene: POMT2
Publications for gene POMT2 were changed from 27604308 to 27421908
Likely inborn error of metabolism - targeted testing not possible v0.4 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 27604308
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
Likely inborn error of metabolism - targeted testing not possible v0.4 POMT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 for gene: POMT1
Publications for gene POMT1 were changed from 27421908 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 27421908
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Likely inborn error of metabolism - targeted testing not possible v0.4 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 27066570
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Likely inborn error of metabolism - targeted testing not possible v0.4 POMGNT1 Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 27604308 to 27421908
Likely inborn error of metabolism - targeted testing not possible v0.4 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 27604308
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Retinitis pigmentosa 76 617123
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPT1 Ellen McDonagh Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1
Publications for gene PNPT1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 27604308
Phenotypes for gene: PNPO were set to Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 27604308
Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PNLIP Ellen McDonagh gene: PNLIP was added
gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 27604308
Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338
Likely inborn error of metabolism - targeted testing not possible v0.4 PMPCA Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA
Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372
Likely inborn error of metabolism - targeted testing not possible v0.4 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514
Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia
Likely inborn error of metabolism - targeted testing not possible v0.4 PMM2 Ellen McDonagh Added phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2
Publications for gene PMM2 were changed from 27604308 to 11875054; 11058895; 11409861
Likely inborn error of metabolism - targeted testing not possible v0.4 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 27604308
Phenotypes for gene: PMM2 were set to Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ia 212065
Likely inborn error of metabolism - targeted testing not possible v0.4 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 27604308; 18570303; 16783378; 18799783
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1
Likely inborn error of metabolism - targeted testing not possible v0.4 PITRM1 Ellen McDonagh gene: PITRM1 was added
gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to PMID: 26697887
Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis
Likely inborn error of metabolism - targeted testing not possible v0.4 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to 27604308
Phenotypes for gene: PINK1 were set to Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGW Ellen McDonagh gene: PIGW was added
gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 24367057
Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGV Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PIGV
Publications for gene PIGV were changed from 27604308 to 20802478; 24129430
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGV Ellen McDonagh gene: PIGV was added
gene: PIGV was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 27604308
Phenotypes for gene: PIGV were set to Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 1 239300; (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGT Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT
Publications for gene PIGT were changed from 28327575 to 23636107; 28327575
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGT Ellen McDonagh gene: PIGT was added
gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 28327575
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGO Ellen McDonagh Added phenotypes (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749 for gene: PIGO
Publications for gene PIGO were changed from 22683086; 27177984; 24129430 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGO Ellen McDonagh gene: PIGO was added
gene: PIGO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGO were set to 22683086; 27177984; 24129430
Phenotypes for gene: PIGO were set to (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hyperphosphatasia with mental retardation syndrome 2 614749
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGN Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 for gene: PIGN
Publications for gene PIGN were changed from 27604308 to 26419326; 21493957
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGN Ellen McDonagh gene: PIGN was added
gene: PIGN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to 27604308
Phenotypes for gene: PIGN were set to PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 1
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGM Ellen McDonagh gene: PIGM was added
gene: PIGM was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Phenotypes for gene: PIGM were set to Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGL Ellen McDonagh Added phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000 for gene: PIGL
Publications for gene PIGL were changed from 27604308 to 22444671
Likely inborn error of metabolism - targeted testing not possible v0.4 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 27604308
Phenotypes for gene: PIGL were set to PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); CHIME syndrome 280000
Likely inborn error of metabolism - targeted testing not possible v0.4 PHYKPL Ellen McDonagh gene: PHYKPL was added
gene: PHYKPL was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYKPL were set to 27604308
Phenotypes for gene: PHYKPL were set to Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism); [?Phosphohydroxylysinuria] 615011
Likely inborn error of metabolism - targeted testing not possible v0.4 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 27604308
Phenotypes for gene: PHYH were set to Refsum disease, 266500; Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 PHKG2 Ellen McDonagh gene: PHKG2 was added
gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKG2 were set to 27604308
Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHKB were set to 27604308
Phenotypes for gene: PHKB were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 27604308; 24816252
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v0.4 PGM3 Ellen McDonagh gene: PGM3 was added
gene: PGM3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24698316
Phenotypes for gene: PGM3 were set to Immunodeficiency 23
Likely inborn error of metabolism - targeted testing not possible v0.4 PGM1 Ellen McDonagh Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1
Publications for gene PGM1 were changed from 27604308 to 27206562
Likely inborn error of metabolism - targeted testing not possible v0.4 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to 27604308
Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934
Likely inborn error of metabolism - targeted testing not possible v0.4 PGAP3 Ellen McDonagh gene: PGAP3 was added
gene: PGAP3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4
Likely inborn error of metabolism - targeted testing not possible v0.4 PGAP2 Ellen McDonagh Added phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) for gene: PGAP2
Publications for gene PGAP2 were changed from 23561846; 23561847 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PGAP2 Ellen McDonagh gene: PGAP2 was added
gene: PGAP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP2 were set to 23561846; 23561847
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAM2 were set to 27604308
Phenotypes for gene: PGAM2 were set to Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 27604308
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX7 were set to 27604308
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1; Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX6 Ellen McDonagh gene: PEX6 was added
gene: PEX6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 27604308
Phenotypes for gene: PEX6 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX5 Ellen McDonagh gene: PEX5 was added
gene: PEX5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 27604308
Phenotypes for gene: PEX5 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 2A (Zellweger)
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX3 Ellen McDonagh gene: PEX3 was added
gene: PEX3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX3 were set to 27604308
Phenotypes for gene: PEX3 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 10A (Zellweger) 614882
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX26 Ellen McDonagh gene: PEX26 was added
gene: PEX26 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 27604308
Phenotypes for gene: PEX26 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 7A (Zellweger) 61487; Peroxisome biogenesis disorder 7B 614873
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX2 Ellen McDonagh gene: PEX2 was added
gene: PEX2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 27604308
Phenotypes for gene: PEX2 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 27604308
Phenotypes for gene: PEX19 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 12A (Zellweger)
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX16 were set to 27604308
Phenotypes for gene: PEX16 were set to Disorders of peroxisome biogenesis; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisomal biogenesis disorders; Zellweger Syndrome
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 27604308
Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger)
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 27604308
Phenotypes for gene: PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger)
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 27604308
Phenotypes for gene: PEX12 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27604308
Phenotypes for gene: PEX10 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871
Likely inborn error of metabolism - targeted testing not possible v0.4 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 27604308
Phenotypes for gene: PEX1 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Peroxisome biogenesis disorder 1A (Zellweger) 214100
Likely inborn error of metabolism - targeted testing not possible v0.4 PET100 Ellen McDonagh Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100
Publications for gene PET100 were changed from PMID: 24462369 to 24462369
Likely inborn error of metabolism - targeted testing not possible v0.4 PET100 Ellen McDonagh gene: PET100 was added
gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET100 were set to PMID: 24462369
Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 PEPD Ellen McDonagh gene: PEPD was added
gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 27604308
Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PDSS2 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS2
Publications for gene PDSS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDSS1 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS1
Publications for gene PDSS1 were changed from PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDSS1 Ellen McDonagh gene: PDSS1 was added
gene: PDSS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg).; PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism - targeted testing not possible v0.4 PDPR Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR
Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065
Likely inborn error of metabolism - targeted testing not possible v0.4 PDPR Ellen McDonagh gene: PDPR was added
gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDPR were set to PMID: 25558065
Likely inborn error of metabolism - targeted testing not possible v0.4 PDP2 Ellen McDonagh gene: PDP2 was added
gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP2 were set to 27604308
Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PDP1 Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782; Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDP1
Publications for gene PDP1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDHX Ellen McDonagh Added phenotypes Lacticacidemia due to PDX1 deficiency; Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) for gene: PDHX
Publications for gene PDHX were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDHB Ellen McDonagh Added phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E1-beta deficiency, 614111 for gene: PDHB
Publications for gene PDHB were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PCK1 Ellen McDonagh gene: PCK1 was added
gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK1 were set to 27604308
Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Likely inborn error of metabolism - targeted testing not possible v0.4 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 27604308
Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 27604308
Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 27604308
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D
Likely inborn error of metabolism - targeted testing not possible v0.4 PC Ellen McDonagh gene: PC was added
gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PC were set to 27604308
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 PARS2 Ellen McDonagh gene: PARS2 was added
gene: PARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Phenotypes for gene: PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome.
Likely inborn error of metabolism - targeted testing not possible v0.4 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 27604308
Phenotypes for gene: PANK2 were set to Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism
Likely inborn error of metabolism - targeted testing not possible v0.4 PAH Ellen McDonagh gene: PAH was added
gene: PAH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 27604308; 24816252
Phenotypes for gene: PAH were set to Phenylketonuria
Likely inborn error of metabolism - targeted testing not possible v0.4 OXCT1 Ellen McDonagh gene: OXCT1 was added
gene: OXCT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 27604308
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency; severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism); Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 27604308
Phenotypes for gene: OAT were set to Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism); Gyrate atrophy of choroid and retina with or without ornithinemia
Likely inborn error of metabolism - targeted testing not possible v0.4 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 27604308
Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930
Likely inborn error of metabolism - targeted testing not possible v0.4 NUBPL Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NUBPL
Publications for gene NUBPL were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NT5C3A Ellen McDonagh gene: NT5C3A was added
gene: NT5C3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 27604308
Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency, 266120; Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NPC1 Ellen McDonagh gene: NPC1 was added
gene: NPC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 27604308
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1
Likely inborn error of metabolism - targeted testing not possible v0.4 NHLRC1 Ellen McDonagh gene: NHLRC1 was added
gene: NHLRC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 27604308
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora)
Likely inborn error of metabolism - targeted testing not possible v0.4 NGLY1 Ellen McDonagh Added phenotypes OrphaNet: ORPHA404454; Alacrimia-choreoathetosis-liver dysfunction syndrome; OMIM:615273 for gene: NGLY1
Publications for gene NGLY1 were changed from to 25220016; 26350515; 25900930; 24651605; 25605922; 22581936; 25707956
Likely inborn error of metabolism - targeted testing not possible v0.4 NFU1 Ellen McDonagh Added phenotypes Multiple mitochondrial dysfunctions syndrome 1; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: NFU1
Publications for gene NFU1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NEU1 Ellen McDonagh gene: NEU1 was added
gene: NEU1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEU1 were set to 27604308
Phenotypes for gene: NEU1 were set to Sialidosis type II; Sialidosis, type I; Sialidosis (Oligosaccharidoses); Mucolipidosis, Type I; Sialidosis
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFV2 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2
Publications for gene NDUFV2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 27604308
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS8 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS8
Publications for gene NDUFS8 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS7 were set to 27604308
Phenotypes for gene: NDUFS7 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS6 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I, mitochondrial respiratory chain, deficiency of, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS6
Publications for gene NDUFS6 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS4 Ellen McDonagh Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS4
Publications for gene NDUFS4 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS3 were set to 27604308
Phenotypes for gene: NDUFS3 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS2 Ellen McDonagh gene: NDUFS2 was added
gene: NDUFS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 27604308
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFS1 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS1
Publications for gene NDUFS1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB9 Ellen McDonagh Added phenotypes ?Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB9
Publications for gene NDUFB9 were changed from 27604308 to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB9 Ellen McDonagh gene: NDUFB9 was added
gene: NDUFB9 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB9 were set to 27604308
Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB3 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFB3
Publications for gene NDUFB3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF6 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6
Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF5 Ellen McDonagh Added phenotypes Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF5
Publications for gene NDUFAF5 were changed from 18940309; PMID: 19542079 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF5 Ellen McDonagh gene: NDUFAF5 was added
gene: NDUFAF5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; PMID: 19542079
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF4 Ellen McDonagh gene: NDUFAF4 was added
gene: NDUFAF4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF4 were set to 27604308
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF3 Ellen McDonagh gene: NDUFAF3 was added
gene: NDUFAF3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF3 were set to 27604308
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF2 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: NDUFAF2
Publications for gene NDUFAF2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFAF1 Ellen McDonagh gene: NDUFAF1 was added
gene: NDUFAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF1 were set to 27604308
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA9 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: NDUFA9
Publications for gene NDUFA9 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA2 Ellen McDonagh Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2
Publications for gene NDUFA2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 27604308
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency,256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA11 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA11
Publications for gene NDUFA11 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 27604308
Phenotypes for gene: NDUFA10 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Leigh syndrome, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NAT8L Ellen McDonagh gene: NAT8L was added
gene: NAT8L was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 19807691
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency 614063
Likely inborn error of metabolism - targeted testing not possible v0.4 NARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24 for gene: NARS2
Publications for gene NARS2 were changed from 25629079; PMID: 25385316; 25807530 to 25629079; 25807530; 25385316
Likely inborn error of metabolism - targeted testing not possible v0.4 NARS2 Ellen McDonagh gene: NARS2 was added
gene: NARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 25629079; PMID: 25385316; 25807530
Phenotypes for gene: NARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 24
Likely inborn error of metabolism - targeted testing not possible v0.4 NAGS Ellen McDonagh gene: NAGS was added
gene: NAGS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGS were set to 27604308
Phenotypes for gene: NAGS were set to N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias); N-acetylglutamate synthase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis Type IIIB
Likely inborn error of metabolism - targeted testing not possible v0.4 MVK Ellen McDonagh gene: MVK was added
gene: MVK was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27604308
Phenotypes for gene: MVK were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 27604308
Phenotypes for gene: MUT were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Methylmalonic aciduria, mut(0) type 251000; Methylmalonyl-CoA mutase deficiency (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 MTRR Ellen McDonagh gene: MTRR was added
gene: MTRR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 27604308
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type
Likely inborn error of metabolism - targeted testing not possible v0.4 MTR Ellen McDonagh gene: MTR was added
gene: MTR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type
Likely inborn error of metabolism - targeted testing not possible v0.4 MTPAP Ellen McDonagh gene: MTPAP was added
gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27604308
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism - targeted testing not possible v0.4 MTO1 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); infantile hypertrophic cardiomyopathy and lactic acidosis. for gene: MTO1
Publications for gene MTO1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MTHFR Ellen McDonagh gene: MTHFR was added
gene: MTHFR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 27604308
Phenotypes for gene: MTHFR were set to Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport); Homocystinuria due to MTHFR deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 MTFMT Ellen McDonagh gene: MTFMT was added
gene: MTFMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 27604308
Phenotypes for gene: MTFMT were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 MSMO1 Ellen McDonagh gene: MSMO1 was added
gene: MSMO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 27604308
Phenotypes for gene: MSMO1 were set to Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis); (SC4MOL DEFICIENCY); Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Likely inborn error of metabolism - targeted testing not possible v0.4 MRPS23 Ellen McDonagh gene: MRPS23 was added
gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS23 were set to PMID: 26741492
Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies
Likely inborn error of metabolism - targeted testing not possible v0.4 MRPS22 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 5, 611719; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MRPS22
Publications for gene MRPS22 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MRPS16 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 2, 610498; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS for gene: MRPS16
Publications for gene MRPS16 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MRPL3 Ellen McDonagh gene: MRPL3 was added
gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL3 were set to 27604308
Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582
Likely inborn error of metabolism - targeted testing not possible v0.4 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 27604308
Phenotypes for gene: MPV17 were set to Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
Likely inborn error of metabolism - targeted testing not possible v0.4 MPI Ellen McDonagh Added phenotypes Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ib 602579 for gene: MPI
Publications for gene MPI were changed from 27604308 to 10980531
Likely inborn error of metabolism - targeted testing not possible v0.4 MPI Ellen McDonagh gene: MPI was added
gene: MPI was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 27604308
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 MPDU1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1
Publications for gene MPDU1 were changed from 11733556 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MPDU1 Ellen McDonagh gene: MPDU1 was added
gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733556
Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v0.4 MOGS Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIb 606056; MOGS-CDG (Disorders of protein N-glycosylation) for gene: MOGS
Publications for gene MOGS were changed from 27604308 to 20301507; 26805780; 24716661; 4716661
Likely inborn error of metabolism - targeted testing not possible v0.4 MOGS Ellen McDonagh gene: MOGS was added
gene: MOGS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 27604308
Phenotypes for gene: MOGS were set to MOGS-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIb, 606056; (MOGS-CDG (Disorders of protein N-glycosylation))
Likely inborn error of metabolism - targeted testing not possible v0.4 MOCS2 Ellen McDonagh gene: MOCS2 was added
gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308
Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 MOCS1 Ellen McDonagh gene: MOCS1 was added
gene: MOCS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308
Phenotypes for gene: MOCS1 were set to Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type
Likely inborn error of metabolism - targeted testing not possible v0.4 MMAB Ellen McDonagh gene: MMAB was added
gene: MMAB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAB were set to 27604308
Phenotypes for gene: MMAB were set to Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism); Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Likely inborn error of metabolism - targeted testing not possible v0.4 MMAA Ellen McDonagh gene: MMAA was added
gene: MMAA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 27604308
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100; Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 MLYCD Ellen McDonagh gene: MLYCD was added
gene: MLYCD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 27604308
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency; malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 MGAT2 Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066 for gene: MGAT2
Publications for gene MGAT2 were changed from 27604308 to 19419693
Likely inborn error of metabolism - targeted testing not possible v0.4 MGAT2 Ellen McDonagh gene: MGAT2 was added
gene: MGAT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 27604308
Phenotypes for gene: MGAT2 were set to N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type IIa 212066
Likely inborn error of metabolism - targeted testing not possible v0.4 MFF Ellen McDonagh Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: MFF
Publications for gene MFF were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MDH2 Ellen McDonagh gene: MDH2 was added
gene: MDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH2 were set to 27989324
Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51
Likely inborn error of metabolism - targeted testing not possible v0.4 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 27604308
Phenotypes for gene: MCOLN1 were set to Mucolipidosis, Type IV; Mucolipidosis IV (Other lysosomal disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 MCEE Ellen McDonagh gene: MCEE was added
gene: MCEE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 27604308
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency (Organic acidurias); Methylmalonyl-CoA epimerase deficiency; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Likely inborn error of metabolism - targeted testing not possible v0.4 MCCC2 Ellen McDonagh gene: MCCC2 was added
gene: MCCC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MCCC1 Ellen McDonagh gene: MCCC1 was added
gene: MCCC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 27604308; 24816252
Likely inborn error of metabolism - targeted testing not possible v0.4 MARS2 Ellen McDonagh Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2
Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to 25754315; PMID: 22448145
Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25
Likely inborn error of metabolism - targeted testing not possible v0.4 MANBA Ellen McDonagh gene: MANBA was added
gene: MANBA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 27604308
Phenotypes for gene: MANBA were set to Mannosidosis, beta
Likely inborn error of metabolism - targeted testing not possible v0.4 MAN2B1 Ellen McDonagh gene: MAN2B1 was added
gene: MAN2B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 27604308
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II
Likely inborn error of metabolism - targeted testing not possible v0.4 MAN1B1 Ellen McDonagh Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1
Publications for gene MAN1B1 were changed from 24348268 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 MAN1B1 Ellen McDonagh gene: MAN1B1 was added
gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN1B1 were set to 24348268
Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202
Likely inborn error of metabolism - targeted testing not possible v0.4 LRPPRC Ellen McDonagh Added phenotypes Leigh syndrome, French-Canadian type, 220111; Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: LRPPRC
Publications for gene LRPPRC were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN1 were set to 27604308
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive
Likely inborn error of metabolism - targeted testing not possible v0.4 LONP1 Ellen McDonagh Added phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) for gene: LONP1
Publications for gene LONP1 were changed from PMID: 25574826; PMID: 25808063 to 25574826; 25808063
Likely inborn error of metabolism - targeted testing not possible v0.4 LONP1 Ellen McDonagh gene: LONP1 was added
gene: LONP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826; PMID: 25808063
Phenotypes for gene: LONP1 were set to CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Likely inborn error of metabolism - targeted testing not possible v0.4 LMBRD1 Ellen McDonagh gene: LMBRD1 was added
gene: LMBRD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 27604308
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Likely inborn error of metabolism - targeted testing not possible v0.4 LIPA Ellen McDonagh gene: LIPA was added
gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 27604308
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease
Likely inborn error of metabolism - targeted testing not possible v0.4 LIAS Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS
Publications for gene LIAS were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 LFNG Ellen McDonagh Added phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG
Publications for gene LFNG were changed from 27604308 to 16385447
Likely inborn error of metabolism - targeted testing not possible v0.4 LFNG Ellen McDonagh gene: LFNG was added
gene: LFNG was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 27604308
Phenotypes for gene: LFNG were set to O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 LDLRAP1 Ellen McDonagh gene: LDLRAP1 was added
gene: LDLRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDLRAP1 were set to 27604308
Phenotypes for gene: LDLRAP1 were set to Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHA were set to 27604308
Phenotypes for gene: LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933; Muscle LDH deficiency (Glycogen storage disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 LCT Ellen McDonagh gene: LCT was added
gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCT were set to 27604308
Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000
Likely inborn error of metabolism - targeted testing not possible v0.4 LCAT Ellen McDonagh gene: LCAT was added
gene: LCAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 27604308
Phenotypes for gene: LCAT were set to Norum disease/LCAT deficiency, 245900; Fish-eye disease, 136120; Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 LARS2 Ellen McDonagh Added phenotypes Perrault syndrome; Perrault syndrome 4, 615300; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LARS2
Publications for gene LARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 LARGE1 Ellen McDonagh Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 for gene: LARGE1
Publications for gene LARGE1 were changed from 27421908 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to 27421908
Phenotypes for gene: LARGE1 were set to N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
Likely inborn error of metabolism - targeted testing not possible v0.4 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 KYNU Ellen McDonagh gene: KYNU was added
gene: KYNU was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 27604308; 17334708; 28792876
Phenotypes for gene: KYNU were set to Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); VACTERL-like phenotype; multiple congenital malformations; ?Hydroxykynureninuria, 236800
Likely inborn error of metabolism - targeted testing not possible v0.4 KHK Ellen McDonagh gene: KHK was added
gene: KHK was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KHK were set to 27604308
Phenotypes for gene: KHK were set to Essential fructosuria (Disorders of fructose metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 KARS Ellen McDonagh Added phenotypes Deafness, autosomal recessive 89, 613916; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 for gene: KARS
Publications for gene KARS were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 27604308; 24816252
Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ITPA Ellen McDonagh gene: ITPA was added
gene: ITPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 27604308
Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency (Disorders of purine metabolism); Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850
Likely inborn error of metabolism - targeted testing not possible v0.4 ISPD Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 for gene: ISPD
Publications for gene ISPD were changed from to 26404900; 26687144
Likely inborn error of metabolism - targeted testing not possible v0.4 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCU were set to 27604308
Phenotypes for gene: ISCU were set to Rhabdomyolysis and metabolic muscle disorders; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 ISCA2 Ellen McDonagh gene: ISCA2 was added
gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to PMID: 25539947
Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder
Likely inborn error of metabolism - targeted testing not possible v0.4 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS
Likely inborn error of metabolism - targeted testing not possible v0.4 IDUA Ellen McDonagh gene: IDUA was added
gene: IDUA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 27604308
Phenotypes for gene: IDUA were set to Hurler syndrome; Mucopolysaccharidosis type 1H/S; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014
Likely inborn error of metabolism - targeted testing not possible v0.4 IBA57 Ellen McDonagh Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57
Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455
Likely inborn error of metabolism - targeted testing not possible v0.4 IBA57 Ellen McDonagh gene: IBA57 was added
gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to PMID: 23462291; 25971455
Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive
Likely inborn error of metabolism - targeted testing not possible v0.4 IARS2 Ellen McDonagh Added phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S); No OMIM phenotype for gene: IARS2
Publications for gene IARS2 were changed from 27604308; 25130867; 27078007 to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings).
Likely inborn error of metabolism - targeted testing not possible v0.4 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 27604308; 25130867; 27078007
Phenotypes for gene: IARS2 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 HYAL1 Ellen McDonagh gene: HYAL1 was added
gene: HYAL1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL1 were set to 27604308
Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX, 601492; MPS IX, Natowicz (MPS IV, Morquio disease)
Likely inborn error of metabolism - targeted testing not possible v0.4 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27208207; 27696117
Likely inborn error of metabolism - targeted testing not possible v0.4 HSPA9 Ellen McDonagh gene: HSPA9 was added
gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to PMID: 26598328
Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Likely inborn error of metabolism - targeted testing not possible v0.4 HSD3B7 Ellen McDonagh gene: HSD3B7 was added
gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B7 were set to 27604308
Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765
Likely inborn error of metabolism - targeted testing not possible v0.4 HSD17B4 Ellen McDonagh gene: HSD17B4 was added
gene: HSD17B4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 27604308
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515; Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 27604308
Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 HOGA1 Ellen McDonagh gene: HOGA1 was added
gene: HOGA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 27604308
Phenotypes for gene: HOGA1 were set to Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hyperoxaluria, primary, type III 613616
Likely inborn error of metabolism - targeted testing not possible v0.4 HMGCS2 Ellen McDonagh gene: HMGCS2 was added
gene: HMGCS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 27604308
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 HMGCL Ellen McDonagh Added phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) for gene: HMGCL
Publications for gene HMGCL were changed from 8617516; 28583327; 9463337; 11129331 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 HMGCL Ellen McDonagh gene: HMGCL was added
gene: HMGCL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 8617516; 28583327; 9463337; 11129331
Phenotypes for gene: HMGCL were set to 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency, 246450; HMGCLD
Likely inborn error of metabolism - targeted testing not possible v0.4 HLCS Ellen McDonagh Added phenotypes Holocarboxylase synthetase deficiency, 253270; Holocarboxylase synthetase deficiency; lactic acidosis with seizures and eczema, immune deficiency; Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) for gene: HLCS
Publications for gene HLCS were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 HIBCH Ellen McDonagh Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency; Methacrylic aciduria (Organic acidurias) for gene: HIBCH
Publications for gene HIBCH were changed from 24299452; PMID: 25251209 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 24299452; PMID: 25251209
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 HGSNAT Ellen McDonagh gene: HGSNAT was added
gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
Likely inborn error of metabolism - targeted testing not possible v0.4 HGD Ellen McDonagh gene: HGD was added
gene: HGD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 27604308
Phenotypes for gene: HGD were set to Alkaptonuria
Likely inborn error of metabolism - targeted testing not possible v0.4 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE2 were set to 27604308
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 HEXB Ellen McDonagh gene: HEXB was added
gene: HEXB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 27604308
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms
Likely inborn error of metabolism - targeted testing not possible v0.4 HARS2 Ellen McDonagh gene: HARS2 was added
gene: HARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS2 were set to 27604308
Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2 614926; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAMP were set to 27604308
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 27604308
Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015
Likely inborn error of metabolism - targeted testing not possible v0.4 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 27604308
Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015
Likely inborn error of metabolism - targeted testing not possible v0.4 HADH Ellen McDonagh gene: HADH was added
gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 27604308
Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 HAAO Ellen McDonagh gene: HAAO was added
gene: HAAO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 27604308; 17334708; 28792876
Phenotypes for gene: HAAO were set to Multiple congenital malformations; VACTERL-like phenotype
Likely inborn error of metabolism - targeted testing not possible v0.4 GYS2 Ellen McDonagh gene: GYS2 was added
gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS2 were set to 27604308
Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver
Likely inborn error of metabolism - targeted testing not possible v0.4 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYS1 were set to 27604308; 21958591; 24579562
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle
Likely inborn error of metabolism - targeted testing not possible v0.4 GUSB Ellen McDonagh gene: GUSB was added
gene: GUSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 27604308
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis VII, 253220; MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII
Likely inborn error of metabolism - targeted testing not possible v0.4 GSS Ellen McDonagh gene: GSS was added
gene: GSS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 27604308
Phenotypes for gene: GSS were set to Glutathione synthetase (GSS) deficiency; Glutathione synthetase deficiency 266130; Glutathione synthetase deficiency with 5-oxoprolinuria; Glutathione synthetase deficiency without 5-oxoprolinuria; Pyroglutamic aciduria; 5-oxoprolinuria; Hemolytic anemia due to glutathione synthetase deficiency 231900; Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle); Fanconi nephropathy
Likely inborn error of metabolism - targeted testing not possible v0.4 GRHPR Ellen McDonagh gene: GRHPR was added
gene: GRHPR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 27604308
Phenotypes for gene: GRHPR were set to Primary hyperoxaluria type II (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type II
Likely inborn error of metabolism - targeted testing not possible v0.4 GPD1 Ellen McDonagh gene: GPD1 was added
gene: GPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 24549054; 22226083
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile, 614480
Likely inborn error of metabolism - targeted testing not possible v0.4 GORAB Ellen McDonagh gene: GORAB was added
gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GORAB were set to 26000619
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Likely inborn error of metabolism - targeted testing not possible v0.4 GNS Ellen McDonagh gene: GNS was added
gene: GNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III
Likely inborn error of metabolism - targeted testing not possible v0.4 GNPTG Ellen McDonagh gene: GNPTG was added
gene: GNPTG was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTG were set to 27604308
Phenotypes for gene: GNPTG were set to Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders); mucolipidpsis type III complementation group C; Mucolipidosis, Type III Gamma; Mucolipidosis III gamma
Likely inborn error of metabolism - targeted testing not possible v0.4 GNPTAB Ellen McDonagh gene: GNPTAB was added
gene: GNPTAB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 27604308
Phenotypes for gene: GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis III alpha/beta; Mucolipidosis II, I-cell disease (Other lysosomal disorders); Mucolipidosis II alpha/beta
Likely inborn error of metabolism - targeted testing not possible v0.4 GNPAT Ellen McDonagh gene: GNPAT was added
gene: GNPAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPAT were set to 27604308
Phenotypes for gene: GNPAT were set to Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders); Rhizomelic chondrodysplasia punctata, type 2 222765
Likely inborn error of metabolism - targeted testing not possible v0.4 GNMT Ellen McDonagh gene: GNMT was added
gene: GNMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 27604308; 17660255
Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 GNE Ellen McDonagh Added phenotypes Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: GNE
Publications for gene GNE were changed from 27604308 to 26721333
Likely inborn error of metabolism - targeted testing not possible v0.4 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 27604308
Phenotypes for gene: GNE were set to Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 GLYCTK Ellen McDonagh gene: GLYCTK was added
gene: GLYCTK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLYCTK were set to 27604308
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria 220120; D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GLUL Ellen McDonagh gene: GLUL was added
gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 27604308
Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GLRX5 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GLRX5
Publications for gene GLRX5 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GLB1 Ellen McDonagh gene: GLB1 was added
gene: GLB1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type I, 230500
Likely inborn error of metabolism - targeted testing not possible v0.4 GIF Ellen McDonagh gene: GIF was added
gene: GIF was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 27604308
Phenotypes for gene: GIF were set to Intrinsic factor deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 GFPT1 Ellen McDonagh Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1
Publications for gene GFPT1 were changed from 23569079 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 23569079
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Likely inborn error of metabolism - targeted testing not possible v0.4 GFM1 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFM1
Publications for gene GFM1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GFER Ellen McDonagh Added phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: GFER
Publications for gene GFER were changed from 19409522; PMID: 26018198 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522; PMID: 26018198
Phenotypes for gene: GFER were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of the mitochondrial import system; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Likely inborn error of metabolism - targeted testing not possible v0.4 GCSH Ellen McDonagh gene: GCSH was added
gene: GCSH was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 27604308; 16450403
Phenotypes for gene: GCSH were set to Glycine encephalopathy
Likely inborn error of metabolism - targeted testing not possible v0.4 GCLC Ellen McDonagh gene: GCLC was added
gene: GCLC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 27604308
Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Likely inborn error of metabolism - targeted testing not possible v0.4 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500; Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Polyglucosan body disease, adult form, 263570
Likely inborn error of metabolism - targeted testing not possible v0.4 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27604308
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type II, 230900; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease; Gaucher disease (Sphingolipidoses)
Likely inborn error of metabolism - targeted testing not possible v0.4 GATM Ellen McDonagh Added phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism); arginine:glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3, 612718 for gene: GATM
Publications for gene GATM were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 27604308
Phenotypes for gene: GAMT were set to Intellectual disability; Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GALT Ellen McDonagh gene: GALT was added
gene: GALT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 27604308
Phenotypes for gene: GALT were set to Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts
Likely inborn error of metabolism - targeted testing not possible v0.4 GALNT3 Ellen McDonagh Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial 211900; Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) for gene: GALNT3
Publications for gene GALNT3 were changed from 27604308 to 15133511
Likely inborn error of metabolism - targeted testing not possible v0.4 GALNT3 Ellen McDonagh gene: GALNT3 was added
gene: GALNT3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 27604308
Phenotypes for gene: GALNT3 were set to Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tumoral calcinosis, hyperphosphatemic, familial 211900
Likely inborn error of metabolism - targeted testing not possible v0.4 GALNS Ellen McDonagh gene: GALNS was added
gene: GALNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Likely inborn error of metabolism - targeted testing not possible v0.4 GALE Ellen McDonagh gene: GALE was added
gene: GALE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 27604308
Phenotypes for gene: GALE were set to Intellectual disability; Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 27604308
Phenotypes for gene: GALC were set to Krabbe disease
Likely inborn error of metabolism - targeted testing not possible v0.4 G6PC Ellen McDonagh gene: G6PC was added
gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC were set to 27604308
Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease
Likely inborn error of metabolism - targeted testing not possible v0.4 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 27604308
Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 FUT8 Ellen McDonagh gene: FUT8 was added
gene: FUT8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Likely inborn error of metabolism - targeted testing not possible v0.4 FTCD Ellen McDonagh gene: FTCD was added
gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 27604308
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 FOXRED1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1
Publications for gene FOXRED1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 27604308
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
Likely inborn error of metabolism - targeted testing not possible v0.4 FMO3 Ellen McDonagh gene: FMO3 was added
gene: FMO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMO3 were set to 27604308
Phenotypes for gene: FMO3 were set to Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Likely inborn error of metabolism - targeted testing not possible v0.4 FLAD1 Ellen McDonagh gene: FLAD1 was added
gene: FLAD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to PubMed: 27259049
Phenotypes for gene: FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Likely inborn error of metabolism - targeted testing not possible v0.4 FKTN Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKTN
Publications for gene FKTN were changed from 27421908 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 27421908
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
Likely inborn error of metabolism - targeted testing not possible v0.4 FKRP Ellen McDonagh Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: FKRP
Publications for gene FKRP were changed from 27421908 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 27421908
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Likely inborn error of metabolism - targeted testing not possible v0.4 FH Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH
Publications for gene FH were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 FECH Ellen McDonagh gene: FECH was added
gene: FECH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FECH were set to 27604308
Phenotypes for gene: FECH were set to Erythropoietic protoporphyria, mild variant; Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity)
Likely inborn error of metabolism - targeted testing not possible v0.4 FBP1 Ellen McDonagh gene: FBP1 was added
gene: FBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBP1 were set to 27604308
Phenotypes for gene: FBP1 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 27604308
Phenotypes for gene: FASTKD2 were set to Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Likely inborn error of metabolism - targeted testing not possible v0.4 FARS2 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Publications for gene FARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to Tyrosinemia, type I
Likely inborn error of metabolism - targeted testing not possible v0.4 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 27604308
Phenotypes for gene: FA2H were set to Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis); Early onset dystonia; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Hereditary spastic paraplegia
Likely inborn error of metabolism - targeted testing not possible v0.4 EXT1 Ellen McDonagh Added phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700 for gene: EXT1
Publications for gene EXT1 were changed from 12417417 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EXT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXT1 were set to 12417417
Phenotypes for gene: EXT1 were set to Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Exostoses, multiple, type 1 133700
Likely inborn error of metabolism - targeted testing not possible v0.4 ETHE1 Ellen McDonagh Added phenotypes Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Ethylmalonic encephalopathy for gene: ETHE1
Publications for gene ETHE1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 27604308; 24816252
Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIA
Likely inborn error of metabolism - targeted testing not possible v0.4 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Likely inborn error of metabolism - targeted testing not possible v0.4 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 28624465; 23222957; 26917586; 23674064; 25331754; 23838600; 26395118
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Likely inborn error of metabolism - targeted testing not possible v0.4 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENO3 were set to 27604308; 25267339; 11506403; 25929793
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII
Likely inborn error of metabolism - targeted testing not possible v0.4 EGF Ellen McDonagh gene: EGF was added
gene: EGF was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGF were set to 27604308
Phenotypes for gene: EGF were set to Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 EARS2 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: EARS2
Publications for gene EARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DPYS Ellen McDonagh gene: DPYS was added
gene: DPYS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYS were set to 27604308
Phenotypes for gene: DPYS were set to Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 DPYD Ellen McDonagh gene: DPYD was added
gene: DPYD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYD were set to 27604308
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM3 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3
Publications for gene DPM3 were changed from 27604308 to 19576565
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 27604308
Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM2 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2
Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM2 were set to 23109149; 19901254
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM1 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DPM1
Publications for gene DPM1 were changed from 23856421 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 23856421
Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v0.4 DPAGT1 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093 for gene: DPAGT1
Publications for gene DPAGT1 were changed from 12872255; 22304930 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ij 608093
Likely inborn error of metabolism - targeted testing not possible v0.4 DOLK Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: DOLK
Publications for gene DOLK were changed from 27604308 to 24144945; 22242004
Likely inborn error of metabolism - targeted testing not possible v0.4 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 27604308
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Likely inborn error of metabolism - targeted testing not possible v0.4 DNAJC19 Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria, type V for gene: DNAJC19
Publications for gene DNAJC19 were changed from 16055927; 27604308; 27426421; 22797137; 27928778 to 27604308; 27426421; 16055927; 27928778
Likely inborn error of metabolism - targeted testing not possible v0.4 DNAJC19 Ellen McDonagh gene: DNAJC19 was added
gene: DNAJC19 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system
Likely inborn error of metabolism - targeted testing not possible v0.4 DNAJC12 Ellen McDonagh gene: DNAJC12 was added
gene: DNAJC12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Likely inborn error of metabolism - targeted testing not possible v0.4 DLD Ellen McDonagh Added phenotypes Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism); Leigh syndrome; Dihydrolipoamide dehydrogenase deficiency, 246900 for gene: DLD
Publications for gene DLD were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DLAT Ellen McDonagh Added phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT
Publications for gene DLAT were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 DHODH Ellen McDonagh gene: DHODH was added
gene: DHODH was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 27604308
Phenotypes for gene: DHODH were set to Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 DHFR Ellen McDonagh gene: DHFR was added
gene: DHFR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 27604308
Phenotypes for gene: DHFR were set to Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport); Megaloblastic anemia due to dihydrofolate reductase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 DHDDS Ellen McDonagh Added phenotypes Retinitis pigmentosa 59 613861 for gene: DHDDS
Publications for gene DHDDS were changed from 27604308 to 21295282; 21295283; 27343064
Likely inborn error of metabolism - targeted testing not possible v0.4 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 27604308
Phenotypes for gene: DHDDS were set to Posterior segment abnormalities; Retinitis pigmentosa (other congenital disorders of glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Intellectual disability; IUGR and IGF abnormalities; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; Cataracts
Likely inborn error of metabolism - targeted testing not possible v0.4 DHCR24 Ellen McDonagh gene: DHCR24 was added
gene: DHCR24 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 27604308
Phenotypes for gene: DHCR24 were set to Desmosterolosis (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v0.4 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 27604308
Phenotypes for gene: DGUOK were set to Deoxyguanosine kinase deficiency (Disorders of purine metabolism); Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Mitochondrial DNA Depletion Syndrome; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism - targeted testing not possible v0.4 DDOST Ellen McDonagh gene: DDOST was added
gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDOST were set to 22305527
Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507
Likely inborn error of metabolism - targeted testing not possible v0.4 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 27604308; 24816252
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 DCXR Ellen McDonagh gene: DCXR was added
gene: DCXR was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 27604308
Phenotypes for gene: DCXR were set to [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2
Likely inborn error of metabolism - targeted testing not possible v0.4 DBT Ellen McDonagh gene: DBT was added
gene: DBT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBT were set to 27604308
Phenotypes for gene: DBT were set to Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria); Maple syrup urine disease, type II
Likely inborn error of metabolism - targeted testing not possible v0.4 DARS2 Ellen McDonagh Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2
Publications for gene DARS2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 D2HGDH Ellen McDonagh gene: D2HGDH was added
gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 27604308
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
Likely inborn error of metabolism - targeted testing not possible v0.4 CYP7B1 Ellen McDonagh gene: CYP7B1 was added
gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 27604308; 9802883
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3
Likely inborn error of metabolism - targeted testing not possible v0.4 CYP7A1 Ellen McDonagh gene: CYP7A1 was added
gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7A1 were set to 27604308
Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 27604308
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Likely inborn error of metabolism - targeted testing not possible v0.4 CTSK Ellen McDonagh gene: CTSK was added
gene: CTSK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 27604308
Phenotypes for gene: CTSK were set to Pycnodysostosis
Likely inborn error of metabolism - targeted testing not possible v0.4 CTSC Ellen McDonagh gene: CTSC was added
gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 27604308
Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia
Likely inborn error of metabolism - targeted testing not possible v0.4 CTSA Ellen McDonagh gene: CTSA was added
gene: CTSA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 27604308
Phenotypes for gene: CTSA were set to Galactosialidosis
Likely inborn error of metabolism - targeted testing not possible v0.4 CTNS Ellen McDonagh gene: CTNS was added
gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 219750
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic
Likely inborn error of metabolism - targeted testing not possible v0.4 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 27604308
Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 27604308; 24816252
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Likely inborn error of metabolism - targeted testing not possible v0.4 CPT1A Ellen McDonagh gene: CPT1A was added
gene: CPT1A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 27604308
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle); CPT deficiency, hepatic, type IA
Likely inborn error of metabolism - targeted testing not possible v0.4 CPS1 Ellen McDonagh gene: CPS1 was added
gene: CPS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 27604308; 24816252
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 COX8A Ellen McDonagh gene: COX8A was added
gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX8A were set to PMID: 26685157
Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy
Likely inborn error of metabolism - targeted testing not possible v0.4 COX6B1 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110 for gene: COX6B1
Publications for gene COX6B1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COX4I2 Ellen McDonagh gene: COX4I2 was added
gene: COX4I2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 27604308
Phenotypes for gene: COX4I2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714
Likely inborn error of metabolism - targeted testing not possible v0.4 COX20 Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX20
Publications for gene COX20 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COX15 Ellen McDonagh Added phenotypes Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15
Publications for gene COX15 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COX14 Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14
Publications for gene COX14 were changed from PMID: 22243966 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COX14 Ellen McDonagh gene: COX14 was added
gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX14 were set to PMID: 22243966
Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 COX10 Ellen McDonagh Added phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX10
Publications for gene COX10 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ9 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9
Publications for gene COQ9 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ8B Ellen McDonagh Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B
Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ8B Ellen McDonagh gene: COQ8B was added
gene: COQ8B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families).
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ8A Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A
Publications for gene COQ8A were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ7 Ellen McDonagh gene: COQ7 was added
gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 26084283
Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ6 Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ6
Publications for gene COQ6 were changed from PMID: 21540551 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ6 Ellen McDonagh gene: COQ6 was added
gene: COQ6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ6 were set to PMID: 21540551
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ4 Ellen McDonagh Added phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 for gene: COQ4
Publications for gene COQ4 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COQ2 Ellen McDonagh Added phenotypes {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 for gene: COQ2
Publications for gene COQ2 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COG8 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG8
Publications for gene COG8 were changed from 27604308 to 17220172; 17331980; 11980916
Likely inborn error of metabolism - targeted testing not possible v0.4 COG8 Ellen McDonagh gene: COG8 was added
gene: COG8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG8 were set to 27604308
Phenotypes for gene: COG8 were set to Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Likely inborn error of metabolism - targeted testing not possible v0.4 COG7 Ellen McDonagh Added phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779 for gene: COG7
Publications for gene COG7 were changed from 15107842; 11980916 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COG7 Ellen McDonagh gene: COG7 was added
gene: COG7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG7 were set to 15107842; 11980916
Phenotypes for gene: COG7 were set to Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIe 608779
Likely inborn error of metabolism - targeted testing not possible v0.4 COG6 Ellen McDonagh Added phenotypes Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576 for gene: COG6
Publications for gene COG6 were changed from 27604308 to 26260076; 11980916
Likely inborn error of metabolism - targeted testing not possible v0.4 COG6 Ellen McDonagh gene: COG6 was added
gene: COG6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 27604308
Phenotypes for gene: COG6 were set to Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Shaheen syndrome 615328; Congenital disorder of glycosylation, type IIl 614576
Likely inborn error of metabolism - targeted testing not possible v0.4 COG5 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) for gene: COG5
Publications for gene COG5 were changed from 23228021; 23430875; 28960046; 19690088; 11980916 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COG5 Ellen McDonagh gene: COG5 was added
gene: COG5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 23228021; 23430875; 28960046; 19690088; 11980916
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Likely inborn error of metabolism - targeted testing not possible v0.4 COG4 Ellen McDonagh Added phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 for gene: COG4
Publications for gene COG4 were changed from 27604308 to 19651599; 21185756; 19494034; 11980916
Likely inborn error of metabolism - targeted testing not possible v0.4 COG4 Ellen McDonagh gene: COG4 was added
gene: COG4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG4 were set to 27604308
Phenotypes for gene: COG4 were set to Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489
Likely inborn error of metabolism - targeted testing not possible v0.4 COG2 Ellen McDonagh gene: COG2 was added
gene: COG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG2 were set to 11980916; 24784932
Phenotypes for gene: COG2 were set to ?Congenital disorder of glycosylation, type IIq, 617395
Likely inborn error of metabolism - targeted testing not possible v0.4 COG1 Ellen McDonagh Added phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIg 611209 for gene: COG1
Publications for gene COG1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 COA5 Ellen McDonagh Added phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COA5
Publications for gene COA5 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 CLPB Ellen McDonagh Added phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder for gene: CLPB
Publications for gene CLPB were changed from PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 to 25597510; 25597511; 25650066; 25595726
Likely inborn error of metabolism - targeted testing not possible v0.4 CLPB Ellen McDonagh gene: CLPB was added
gene: CLPB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Likely inborn error of metabolism - targeted testing not possible v0.4 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 27604308
Phenotypes for gene: CLDN19 were set to Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Likely inborn error of metabolism - targeted testing not possible v0.4 CLDN16 Ellen McDonagh gene: CLDN16 was added
gene: CLDN16 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 27604308
Phenotypes for gene: CLDN16 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 27604308
Phenotypes for gene: CISD2 were set to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Intellectual disability
Likely inborn error of metabolism - targeted testing not possible v0.4 CHSY1 Ellen McDonagh Added phenotypes Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHSY1
Publications for gene CHSY1 were changed from 27604308 to 24269551; 21129727
Likely inborn error of metabolism - targeted testing not possible v0.4 CHSY1 Ellen McDonagh gene: CHSY1 was added
gene: CHSY1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 27604308
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST6 Ellen McDonagh Added phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6
Publications for gene CHST6 were changed from 16568029 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST6 Ellen McDonagh gene: CHST6 was added
gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST6 were set to 16568029
Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST3 Ellen McDonagh Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST3
Publications for gene CHST3 were changed from 27604308 to 20830804
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST3 Ellen McDonagh gene: CHST3 was added
gene: CHST3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 27604308
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST14 Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: CHST14
Publications for gene CHST14 were changed from 26646600 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST14 were set to 26646600
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 27604308
Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541
Likely inborn error of metabolism - targeted testing not possible v0.4 CEP89 Ellen McDonagh gene: CEP89 was added
gene: CEP89 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to PMID: 23575228
Phenotypes for gene: CEP89 were set to isolated complex IV deficiency, intellectual disability and multisystemic problems
Likely inborn error of metabolism - targeted testing not possible v0.4 CCDC115 Ellen McDonagh gene: CCDC115 was added
gene: CCDC115 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo 616828
Likely inborn error of metabolism - targeted testing not possible v0.4 CA5A Ellen McDonagh gene: CA5A was added
gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 27604308
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 27604308
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration
Likely inborn error of metabolism - targeted testing not possible v0.4 C12orf65 Ellen McDonagh Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 55, autosomal recessive, 615035; Combined oxidative phosphorylation deficiency 7, 613559 for gene: C12orf65
Publications for gene C12orf65 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 BTD Ellen McDonagh gene: BTD was added
gene: BTD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 27604308
Phenotypes for gene: BTD were set to Biotinidase deficiency (Disorders of biotin metabolism); Biotinidase deficiency; lactic acidosis with seizures and eczema,immune deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 BOLA3 Ellen McDonagh Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3
Publications for gene BOLA3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 27604308
Phenotypes for gene: BCS1L were set to Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358
Likely inborn error of metabolism - targeted testing not possible v0.4 BCKDK Ellen McDonagh gene: BCKDK was added
gene: BCKDK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to 27604308; 22956686
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 27604308
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism - targeted testing not possible v0.4 BCKDHA Ellen McDonagh gene: BCKDHA was added
gene: BCKDHA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 27604308
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia; BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Likely inborn error of metabolism - targeted testing not possible v0.4 BAAT Ellen McDonagh gene: BAAT was added
gene: BAAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAAT were set to 27604308; 23415802
Phenotypes for gene: BAAT were set to Hypercholanemia, familial
Likely inborn error of metabolism - targeted testing not possible v0.4 B4GALT7 Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7
Publications for gene B4GALT7 were changed from 27827381 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 27827381
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 B4GALT1 Ellen McDonagh Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1
Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538
Likely inborn error of metabolism - targeted testing not possible v0.4 B4GALT1 Ellen McDonagh gene: B4GALT1 was added
gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT1 were set to 27604308
Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GLCT Ellen McDonagh Added phenotypes Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GLCT
Publications for gene B3GLCT were changed from 27604308 to 23889335; 16909395
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 27604308
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GAT3 Ellen McDonagh Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: B3GAT3
Publications for gene B3GAT3 were changed from 27871226; 26086840; 21763480 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GAT3 Ellen McDonagh gene: B3GAT3 was added
gene: B3GAT3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27871226; 26086840; 21763480
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GALT6 Ellen McDonagh gene: B3GALT6 was added
gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT6 were set to 23664117; 23664118
Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2
Likely inborn error of metabolism - targeted testing not possible v0.4 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Likely inborn error of metabolism - targeted testing not possible v0.4 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 27604308
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I; Methylglutaconic aciduria type I (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ATPAF2 Ellen McDonagh Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Isolated complex V deficiency; Mitochondrial Diseases; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type for gene: ATPAF2
Publications for gene ATPAF2 were changed from 27604308 to 14757859; 19933271
Likely inborn error of metabolism - targeted testing not possible v0.4 ATPAF2 Ellen McDonagh gene: ATPAF2 was added
gene: ATPAF2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 27604308
Phenotypes for gene: ATPAF2 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial Diseases; Isolated complex V deficiency; Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 27604308
Phenotypes for gene: ATP7B were set to Wilson disease
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP6V0A2 Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2
Publications for gene ATP6V0A2 were changed from 20301755 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 20301755
Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5A1 Ellen McDonagh Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1
Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5A1 Ellen McDonagh gene: ATP5A1 was added
gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 27604308
Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045
Likely inborn error of metabolism - targeted testing not possible v0.4 ATIC Ellen McDonagh gene: ATIC was added
gene: ATIC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 27604308
Phenotypes for gene: ATIC were set to Intellectual disability; AICAR transformylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 ASS1 Ellen McDonagh gene: ASS1 was added
gene: ASS1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 27604308
Phenotypes for gene: ASS1 were set to Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias); Citrullinemia
Likely inborn error of metabolism - targeted testing not possible v0.4 ASPA Ellen McDonagh gene: ASPA was added
gene: ASPA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 27604308
Phenotypes for gene: ASPA were set to Canavan disease
Likely inborn error of metabolism - targeted testing not possible v0.4 ASL Ellen McDonagh gene: ASL was added
gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 27604308
Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 27604308
Phenotypes for gene: ASAH1 were set to Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops
Likely inborn error of metabolism - targeted testing not possible v0.4 ARSB Ellen McDonagh gene: ARSB was added
gene: ARSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 27604308
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6; Mucopolysaccharidosis, Type VI; Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
Likely inborn error of metabolism - targeted testing not possible v0.4 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to 27604308; 24816252
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Likely inborn error of metabolism - targeted testing not possible v0.4 ARG1 Ellen McDonagh gene: ARG1 was added
gene: ARG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 27604308
Phenotypes for gene: ARG1 were set to Argininaemia (Urea cycle disorders and inherited hyperammonaemias); Argininemia 207800
Likely inborn error of metabolism - targeted testing not possible v0.4 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 27604308
Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis
Likely inborn error of metabolism - targeted testing not possible v0.4 APRT Ellen McDonagh gene: APRT was added
gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 27604308
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 APOC2 Ellen McDonagh gene: APOC2 was added
gene: APOC2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOC2 were set to 27604308
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750; Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 AMT Ellen McDonagh gene: AMT was added
gene: AMT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 27604308
Phenotypes for gene: AMT were set to Glycine encephalopathy
Likely inborn error of metabolism - targeted testing not possible v0.4 AMPD1 Ellen McDonagh gene: AMPD1 was added
gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD1 were set to 27604308
Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511
Likely inborn error of metabolism - targeted testing not possible v0.4 AMN Ellen McDonagh gene: AMN was added
gene: AMN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 27604308
Phenotypes for gene: AMN were set to Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism); Proteinuric renal disease; Unexplained kidney failure in young people
Likely inborn error of metabolism - targeted testing not possible v0.4 AMACR Ellen McDonagh gene: AMACR was added
gene: AMACR was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 27604308
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency; Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG9 Ellen McDonagh Added phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 for gene: ALG9
Publications for gene ALG9 were changed from 27604308; 15148656; 25966638 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG9 Ellen McDonagh gene: ALG9 was added
gene: ALG9 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 27604308; 15148656; 25966638
Phenotypes for gene: ALG9 were set to Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG8 Ellen McDonagh Added phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104 for gene: ALG8
Publications for gene ALG8 were changed from 12480927; 15235028 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG8 Ellen McDonagh gene: ALG8 was added
gene: ALG8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 12480927; 15235028
Phenotypes for gene: ALG8 were set to Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ih 608104
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG6 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) for gene: ALG6
Publications for gene ALG6 were changed from 10914684 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG6 Ellen McDonagh gene: ALG6 was added
gene: ALG6 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG6 were set to 10914684
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG3 Ellen McDonagh Added phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110 for gene: ALG3
Publications for gene ALG3 were changed from 27604308 to 15108280; 19862844
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG3 Ellen McDonagh gene: ALG3 was added
gene: ALG3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 27604308
Phenotypes for gene: ALG3 were set to Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation); ALG3-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG2 Ellen McDonagh Added phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 for gene: ALG2
Publications for gene ALG2 were changed from 27604308 to 12684507; 23404334
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG2 Ellen McDonagh gene: ALG2 was added
gene: ALG2 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG2 were set to 27604308
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG14 Ellen McDonagh Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14
Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG14 Ellen McDonagh gene: ALG14 was added
gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 27604308
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG12 Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12
Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG12 Ellen McDonagh gene: ALG12 was added
gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 27604308
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG11 Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11
Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG11 Ellen McDonagh gene: ALG11 was added
gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG11 were set to 27604308; 22213132
Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG1 Ellen McDonagh Added phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1
Publications for gene ALG1 were changed from 27604308 to 22966035; 14973782; 26931382
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG1 Ellen McDonagh gene: ALG1 was added
gene: ALG1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG1 were set to 27604308
Phenotypes for gene: ALG1 were set to Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDOB Ellen McDonagh gene: ALDOB was added
gene: ALDOB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 27604308
Phenotypes for gene: ALDOB were set to hereditary fructose intolerance; Hereditary fructose intolerance (Disorders of fructose metabolism); acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 27604308
Phenotypes for gene: ALDOA were set to Glycogen Storage Disease; Aldolase A deficiency (Glycogen storage disorders); Glycogen storage disease XII, 611881
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH7A1 Ellen McDonagh gene: ALDH7A1 was added
gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 27604308
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH6A1 Ellen McDonagh gene: ALDH6A1 was added
gene: ALDH6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 27604308
Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency 614105; 3-Hydroxyisobutyric aciduria (Organic acidurias); Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH5A1 Ellen McDonagh gene: ALDH5A1 was added
gene: ALDH5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 27604308
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH4A1 Ellen McDonagh gene: ALDH4A1 was added
gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 27604308
Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 27604308
Phenotypes for gene: ALDH3A2 were set to Intellectual disability; Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism); Inherited white matter disorders
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 27604308; 24816252
Phenotypes for gene: ALDH18A1 were set to Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Likely inborn error of metabolism - targeted testing not possible v0.4 ALAD Ellen McDonagh gene: ALAD was added
gene: ALAD was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALAD were set to 27604308
Phenotypes for gene: ALAD were set to {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias); Porphyria, acute hepatic 612740
Likely inborn error of metabolism - targeted testing not possible v0.4 AKR1D1 Ellen McDonagh gene: AKR1D1 was added
gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 27604308; 24816252
Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555
Likely inborn error of metabolism - targeted testing not possible v0.4 AHCY Ellen McDonagh gene: AHCY was added
gene: AHCY was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 27604308
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids)
Likely inborn error of metabolism - targeted testing not possible v0.4 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 27604308
Phenotypes for gene: AGXT were set to Primary hyperoxaluria type I (Other peroxisomal disorders); Primary hyperoxaluria type I (Disorders of glyoxylate metabolism); Hyperoxaluria, primary, type 1
Likely inborn error of metabolism - targeted testing not possible v0.4 AGPS Ellen McDonagh gene: AGPS was added
gene: AGPS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 27604308
Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121; Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Likely inborn error of metabolism - targeted testing not possible v0.4 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 27604308
Phenotypes for gene: AGL were set to Glycogen storage disease type III, Cori (Glycogen storage disorders); Glycogen storage disease IIIb, 232400; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; Glycogen Storage Disease Type III; Glycogen Storage Disorders- Muscle; Glycogen storage disease IIIa, 232400
Likely inborn error of metabolism - targeted testing not possible v0.4 AGK Ellen McDonagh Added phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 10; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis); Sengers syndrome, 212350; Sengers syndrome 212350; Disorders of mitochondrial lipid metabolism; Cataract 38, autosomal recessive, 614691 for gene: AGK
Publications for gene AGK were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 AGK Ellen McDonagh gene: AGK was added
gene: AGK was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Mitochondrial DNA depletion syndrome 10; Sengers syndrome, 212350; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Disorders of mitochondrial lipid metabolism
Likely inborn error of metabolism - targeted testing not possible v0.4 AGA Ellen McDonagh gene: AGA was added
gene: AGA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 27604308
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Likely inborn error of metabolism - targeted testing not possible v0.4 ADSL Ellen McDonagh gene: ADSL was added
gene: ADSL was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 27604308
Phenotypes for gene: ADSL were set to Intellectual disability; Epileptic encephalopathy; Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 ADA Ellen McDonagh gene: ADA was added
gene: ADA was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 27604308
Phenotypes for gene: ADA were set to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Likely inborn error of metabolism - targeted testing not possible v0.4 ACY1 Ellen McDonagh gene: ACY1 was added
gene: ACY1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 27604308
Phenotypes for gene: ACY1 were set to Intellectual disability; Aminoacylase 1 deficiency (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACSF3 Ellen McDonagh gene: ACSF3 was added
gene: ACSF3 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 27604308
Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria
Likely inborn error of metabolism - targeted testing not possible v0.4 ACOX1 Ellen McDonagh gene: ACOX1 was added
gene: ACOX1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX1 were set to 27604308
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency; Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACAT1 Ellen McDonagh gene: ACAT1 was added
gene: ACAT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 27604308
Phenotypes for gene: ACAT1 were set to Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism); Fasting intolerance with acidosis, ? residual neurological problems; 3-Oxothiolase deficiency (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 27604308
Phenotypes for gene: ACADVL were set to VLCAD deficiency; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACADSB Ellen McDonagh gene: ACADSB was added
gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 27604308
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACADS Ellen McDonagh gene: ACADS was added
gene: ACADS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 27604308; 24816252
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of
Likely inborn error of metabolism - targeted testing not possible v0.4 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 27604308; 24816252
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of; Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism - targeted testing not possible v0.4 ACAD9 Ellen McDonagh Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: ACAD9
Publications for gene ACAD9 were changed from PMID:17564966; 21057504 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to PMID:17564966; 21057504
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency; ACAD9 deficiency, 611126; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 ACAD8 Ellen McDonagh gene: ACAD8 was added
gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 27604308
Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABHD5 Ellen McDonagh gene: ABHD5 was added
gene: ABHD5 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 27604308
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome 275630; Neutral lipid storage disease (Disorders of lipolysis)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 27604308
Phenotypes for gene: ABHD12 were set to Hereditary ataxia; Posterior segment abnormalities; Congenital hearing impairment (profound/severe); PHARC syndrome (Disorders of complex lipid synthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCG8 Ellen McDonagh gene: ABCG8 was added
gene: ABCG8 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 27604308
Phenotypes for gene: ABCG8 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCG5 Ellen McDonagh gene: ABCG5 was added
gene: ABCG5 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG5 were set to 27604308
Phenotypes for gene: ABCG5 were set to Sitosterolaemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCD4 Ellen McDonagh gene: ABCD4 was added
gene: ABCD4 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 27604308; 23141461; 25234635
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCB11 Ellen McDonagh gene: ABCB11 was added
gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 27604308
Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847
Likely inborn error of metabolism - targeted testing not possible v0.4 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 27604308
Phenotypes for gene: ABCA1 were set to Tangier disease (Disorders of high density lipoprotein metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 ABAT Ellen McDonagh Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT
Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ABAT Ellen McDonagh gene: ABAT was added
gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457
Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome
Likely inborn error of metabolism - targeted testing not possible v0.4 AASS Ellen McDonagh gene: AASS was added
gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 27604308
Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 AARS2 Ellen McDonagh Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2
Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 AARS2 Ellen McDonagh gene: AARS2 was added
gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 25058219; PMID: 21549344
Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy