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| Likely inborn error of metabolism - targeted testing not possible v2.187 | EHHADH | Arina Puzriakova Classified gene: EHHADH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.187 | EHHADH | Arina Puzriakova Gene: ehhadh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.186 | EHHADH | Arina Puzriakova Phenotypes for gene: EHHADH were changed from L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine to ?Fanconi renotubular syndrome 3, OMIM:615605; L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.185 | EHHADH | Arina Puzriakova Publications for gene: EHHADH were set to PMID: 33340416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.184 | EHHADH | Arina Puzriakova Mode of inheritance for gene: EHHADH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.183 | EHHADH | Arina Puzriakova reviewed gene: EHHADH: Rating: ; Mode of pathogenicity: None; Publications: 24401050, 27160910; Phenotypes: ?Fanconi renotubular syndrome 3, OMIM:615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.154 | EHHADH |
Andžela Lazdāne gene: EHHADH was added gene: EHHADH was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: EHHADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHHADH were set to PMID: 33340416 Phenotypes for gene: EHHADH were set to L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine Review for gene: EHHADH was set to AMBER Added comment: Fanconi renotubular syndrome type 3. The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation. IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation. Sources: Literature |
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| Likely inborn error of metabolism - targeted testing not possible v2.85 | HADHB | Eleanor Williams Source: Expert Review Red was removed from gene: HADHB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.84 | HADHA | Eleanor Williams Source: Expert Review Red was removed from gene: HADHA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.146 | HADH | Sarah Leigh Classified gene: HADH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.146 | HADH |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975. |
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| Likely inborn error of metabolism - targeted testing not possible v1.146 | HADH | Sarah Leigh Gene: hadh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.145 | HADH | Sarah Leigh Publications for gene: HADH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.144 | HADH | Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.144 | HADH | Sarah Leigh Phenotypes for gene: HADH were changed from Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | HADHB |
Ivone Leong Source NHS GMS was added to HADHB. Source London North GLH was added to HADHB. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HADHA |
Ivone Leong Source NHS GMS was added to HADHA. Source London North GLH was added to HADHA. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HADH |
Ivone Leong Source NHS GMS was added to HADH. Source London North GLH was added to HADH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHB |
Ellen McDonagh gene: HADHB was added gene: HADHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HADHA |
Ellen McDonagh gene: HADHA was added gene: HADHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 27604308 Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Trifunctional protein deficiency 609015 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HADH |
Ellen McDonagh gene: HADH was added gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 27604308 Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) |
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