Likely inborn error of metabolism
Gene: SARDH

SARDH (sarcosine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000123453
EnsemblGeneIds (GRCh37): ENSG00000123453
OMIM: 604455, Gene2Phenotype
SARDH is in 2 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Biallelic variants described in patients with abnormal lab tests results (ie. sarcosinaemia and sarcosinuria). Patients followed up until adulthood are free of clinical symptoms. Omim lists as non-pathogenic phenotype
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Sarcosinemia] 268900

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

[Sarcosinemia] 268900
Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism)

OMIM

604455

Clinvar variants

Variants in SARDH

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SARDH. Source London North GLH was added to SARDH.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes