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  3. SLC25A42
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Arthrogryposis

Gene: SLC25A42

Red List (low evidence)
SLC25A42 (solute carrier family 25 member 42)
EnsemblGeneIds (GRCh38): ENSG00000181035
EnsemblGeneIds (GRCh37): ENSG00000181035
OMIM: 610823, Gene2Phenotype
SLC25A42 is in 6 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 3:12 p.m.
Created: 22 Dec 2016, 3:12 p.m.

Panel version: 1.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
OMIM
610823
Clinvar variants
Variants in SLC25A42
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A42 was added to Arthrogryposispanel. Sources: Literature

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC25A42 was created by ellenmcdonagh