Miscellaneous Metabolic Disorders
Gene: SARDHEnsemblGeneIds (GRCh38): ENSG00000123453
EnsemblGeneIds (GRCh37): ENSG00000123453
OMIM: 604455, Gene2Phenotype
SARDH is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Benign metabolic state producing no diseaseCreated: 8 Feb 2021, 3:44 a.m. | Last Modified: 8 Feb 2021, 3:44 a.m.
Panel Version: 0.317
4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine.
Sources: LiteratureCreated: 8 Feb 2021, 3:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Sarcosinemia MIM#268900
- Disorders of serine, glycine or glycerate metabolism
- OMIM
- 604455
- Clinvar variants
- Variants in SARDH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sardh has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sardh has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SARDH was added gene: SARDH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 22825317; 27604308 Phenotypes for gene: SARDH were set to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism Review for gene: SARDH was set to GREEN