Aminoacidopathy
Gene: SARDH
SARDH (sarcosine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000123453
EnsemblGeneIds (GRCh37): ENSG00000123453
OMIM: 604455, Gene2Phenotype
SARDH is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000123453
EnsemblGeneIds (GRCh37): ENSG00000123453
OMIM: 604455, Gene2Phenotype
SARDH is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
The clinical phenotypes vary and sarcosinemia is considered a benign condition.
Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:006052
Sources: ClinGenCreated: 9 Jul 2024, 5:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sarcosinemia MONDO:0010008
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- sarcosinemia MONDO:0010008
- OMIM
- 604455
- Clinvar variants
- Variants in SARDH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sardh has been classified as Red List (Low Evidence).
14 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sardh has been classified as Red List (Low Evidence).
9 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SARDH was added gene: SARDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 22825317 Phenotypes for gene: SARDH were set to sarcosinemia MONDO:0010008 Review for gene: SARDH was set to RED