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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 v4.50 SPG7 Achchuthan Shanmugasundram Mode of inheritance for gene SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.2 SPG7 Sarah Leigh edited their review of gene: SPG7: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.5 APOA5 Achchuthan Shanmugasundram Mode of inheritance for gene APOA5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible 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 v2.206 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 v2.188 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 v2.171 APOA5 Sarah Leigh commented on gene: APOA5: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Likely inborn error of metabolism - targeted testing not possible v2.171 APOA5 Sarah Leigh edited their review of gene: APOA5: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for familial hypertriglycidaemia. Both risk polymorphisms (PMID 12417525; 12915450) and rarer APOA5 variants have been identified in hyperchylomicronemia, late-onset (OMIM:144650) and susceptibility to hypertriglyceridemia (OMIM:145750)(PMID: 23307945; 27678447; 16200213). In general, cases carrying biallelic variants (both polymorphisms and rarer variants) have a severer phenotype than monoallelic carriers (PMID: 12417525; 23307945; 27678447; 16200213).; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v2.41 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 v2.1 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 v1.422 UPB1 Ellen McDonagh changed review comment from: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].; to: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443).
Likely inborn error of metabolism - targeted testing not possible v1.422 UPB1 Ellen McDonagh commented on gene: UPB1: Additional comments were provided by Dr Clare Beesley and colleagues (Great Ormond Street Hospital for Children NHS Foundation Trust) as part of the GMS Metabolic Specialist disease test group: 16 mutations reported in HGMD & several families have been reported in the literature. Heterologous expression of A85E mutant enzyme in E. coli yielded no residual activity (Van Kuilenburg et al., 2004, PMID: 15385443].
Likely inborn error of metabolism - targeted testing not possible v1.421 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 v1.406 NSUN3 Catherine Snow changed review comment from: PMID: 27356879 - reports on a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.; to: PMID: 27356879 - reports on a compound heterozygous variant resulting in a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.395 ABCB7 Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.384 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 v1.381 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 v1.379 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 v1.360 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 v1.339 STS Catherine Snow edited their review of gene: STS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.286 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 v1.281 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 v1.254 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 v1.247 PRPS1 Sarah Leigh Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.137 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.134 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.133 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism - targeted testing not possible v1.54 MUT Louise Daugherty commented on gene: MUT
Likely inborn error of metabolism - targeted testing not possible v1.54 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Likely inborn error of metabolism - targeted testing not possible v1.53 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism - targeted testing not possible v1.47 MUT Ivone Leong Source NHS GMS was added to MUT.
Source London North GLH was added to MUT.
Likely inborn error of metabolism - targeted testing not possible v0.25 GLUD1 Ellen McDonagh Added comment: Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants.
Likely inborn error of metabolism - targeted testing not possible v0.4 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 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 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 gene: PDK3 was added
gene: PDK3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Likely inborn error of metabolism - targeted testing not possible v0.4 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to Leigh syndrome, X-linked, 308930; Pyruvate dehydrogenase E1-alpha deficiency, 312170
Likely inborn error of metabolism - targeted testing not possible v0.4 OTC Ellen McDonagh gene: OTC was added
gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OTC were set to 27604308
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
Likely inborn error of metabolism - targeted testing not possible v0.4 NSDHL Ellen McDonagh gene: NSDHL was added
gene: NSDHL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 27604308
Phenotypes for gene: NSDHL were set to Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis); CHILD syndrome 308050 XLD; CK syndrome 300831 XLR
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFB11 Ellen McDonagh gene: NDUFB11 was added
gene: NDUFB11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 27604308
Phenotypes for gene: LAMP2 were set to Danon disease
Likely inborn error of metabolism - targeted testing not possible v0.4 HSD17B10 Ellen McDonagh gene: HSD17B10 was added
gene: HSD17B10 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HSD17B10 were set to 27604308
Phenotypes for gene: HSD17B10 were set to Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v0.4 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1; Microphthalmia, syndromic 7, 309801
Likely inborn error of metabolism - targeted testing not possible v0.4 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry Disease; Fabry disease (Sphingolipidoses); Fabry disease, 301500
Likely inborn error of metabolism - targeted testing not possible v0.4 GK Ellen McDonagh gene: GK was added
gene: GK was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GK were set to 27604308
Phenotypes for gene: GK were set to Glycerol kinase deficiency (Disorders of glycerol metabolism); Intellectual disability; Intellectual_disability
Likely inborn error of metabolism - targeted testing not possible v0.4 EBP Ellen McDonagh gene: EBP was added
gene: EBP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 27604308
Phenotypes for gene: EBP were set to MEND syndrome 300960 XLR; Chondrodysplasia punctata, X-linked dominant 302960 XLD; X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Likely inborn error of metabolism - targeted testing not possible v0.4 COX7B Ellen McDonagh gene: COX7B was added
gene: COX7B was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies; Isolated complex IV deficiency; Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887; MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG13 Ellen McDonagh 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 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 gene: TIMM8A was added
gene: TIMM8A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive
Likely inborn error of metabolism - targeted testing not possible v0.4 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Disorders of mitochondrial lipid metabolism
Likely inborn error of metabolism - targeted testing not possible v0.4 SSR4 Ellen McDonagh 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 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 gene: MAGT1 was added
gene: MAGT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 27604308
Phenotypes for gene: MAGT1 were set to Combined B and T cell defect; IAP-CDG (Disorders of protein N-glycosylation)
Likely inborn error of metabolism - targeted testing not possible v0.4 IDS Ellen McDonagh gene: IDS was added
gene: IDS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 27604308
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2; MPS II, Hunter disease (Mucopolysaccharidoses); Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II
Likely inborn error of metabolism - targeted testing not possible v0.4 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HPRT1 were set to 27604308
Phenotypes for gene: HPRT1 were set to HPRT-related gout
Likely inborn error of metabolism - targeted testing not possible v0.4 HCFC1 Ellen McDonagh gene: HCFC1 was added
gene: HCFC1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP6AP1 Ellen McDonagh gene: ATP6AP1 was added
gene: ATP6AP1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47
Likely inborn error of metabolism - targeted testing not possible v0.4 ARSE Ellen McDonagh gene: ARSE was added
gene: ARSE was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive 302950
Likely inborn error of metabolism - targeted testing not possible v0.4 AIFM1 Ellen McDonagh 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 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 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 gene: OPA1 was added
gene: OPA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Disorders of mitochondrial DNA maintenance and integrity; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500; Mitochondrial DNA Depletion Syndrome
Likely inborn error of metabolism - targeted testing not possible v0.4 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Isolated complex I deficiency
Likely inborn error of metabolism - targeted testing not possible v0.4 HSPD1 Ellen McDonagh gene: HSPD1 was added
gene: HSPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280
Likely inborn error of metabolism - targeted testing not possible v0.4 GDAP1 Ellen McDonagh 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 gene: AFG3L2 was added
gene: AFG3L2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246; Disorders of mitochondrial DNA maintenance and integrity
Likely inborn error of metabolism - targeted testing not possible v0.4 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 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 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 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 CUBN Ellen McDonagh gene: CUBN was added
gene: CUBN was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism); Megaloblastic anemia-1, Finnish type; Proteinuric renal disease; Unexplained kidney failure in young people
Likely inborn error of metabolism - targeted testing not possible v0.4 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