Miscellaneous Metabolic Disorders
Gene: GCDHEnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Glutaric acidemia type I is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 4:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I MIM#231670; Organic acidurias
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Glutaricaciduria, type I MIM#231670
- Organic acidurias
- Tags
- OMIM
- 608801
- Clinvar variants
- Variants in GCDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: GCDH.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gcdh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gcdh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GCDH was added gene: GCDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 27604308; 8541831; 8900227 Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670; Organic acidurias Review for gene: GCDH was set to GREEN gene: GCDH was marked as current diagnostic