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Inborn errors of metabolism

Gene: SARDH

Red List (low evidence)

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

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
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

Ellen McDonagh (Genomics England Curator)

gene: SARDH was added gene: SARDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 27604308 Phenotypes for gene: SARDH were set to [Sarcosinemia] 268900; Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism)