Likely inborn error of metabolism
Gene: ISCA1

ISCA1 (iron-sulfur cluster assembly 1)
EnsemblGeneIds (GRCh38): ENSG00000135070
EnsemblGeneIds (GRCh37): ENSG00000135070
OMIM: 611006, Gene2Phenotype
ISCA1 is in 5 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. A homozygous variant has been reported in two unrelated Indian families, and a second case homozygous for a different variant has been reported.
Created: 25 Feb 2019, 4:02 p.m.

This gene was added to this panel, after being added to the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel. The gene and information added for the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel was collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ISCA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Sources: Expert list, Expert Review
Created: 25 Feb 2019, 4:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613

Publications

Created: 25 Feb 2019, 4:01 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.103

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert Review
Expert list

Phenotypes

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613

OMIM

611006

Clinvar variants

Variants in ISCA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: ISCA1 was added gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 29767723; 28356563 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613

Likely inborn error of metabolism Gene: ISCA1