Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: NFS1

Red List (low evidence)

NFS1 (NFS1, cysteine desulfurase)
EnsemblGeneIds (GRCh38): ENSG00000244005
EnsemblGeneIds (GRCh37): ENSG00000244005
OMIM: 603485, Gene2Phenotype
NFS1 is in 3 panels

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

No further variants have been reported in the literature to date (21/10/2019).
Created: 21 Oct 2019, 3:17 p.m. | Last Modified: 21 Oct 2019, 3:17 p.m.
Panel Version: 1.373

Ivone Leong (Genomics England Curator)

No additional reports were found so therefore this gene will remain a red gene until further evidence is available.
Created: 2 May 2019, 2:57 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I can only find a single family reported in the literature.
Created: 31 Aug 2018, 4:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
603485
Clinvar variants
Variants in NFS1
Penetrance
None
Panels with this gene

History Filter Activity

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NFS1 was added gene: NFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NFS1 was set to Unknown Phenotypes for gene: NFS1 were set to No OMIM phenotype