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Intellectual disability

Gene: SFXN4

Amber List (moderate evidence)

SFXN4 (sideroflexin 4)
EnsemblGeneIds (GRCh38): ENSG00000183605
EnsemblGeneIds (GRCh37): ENSG00000183605
OMIM: 615564, Gene2Phenotype
SFXN4 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 3 unreleated cases, with mild to severe intellectual disability.
Created: 6 Aug 2020, 10:26 a.m. | Last Modified: 6 Aug 2020, 10:26 a.m.
Panel Version: 3.230

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported, mild ID as well as other neurological features are part of the phenotype.
Sources: Expert list
Created: 16 Feb 2020, 7:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 18, MIM#615578

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 18 615578
Tags
for-review
OMIM
615564
Clinvar variants
Variants in SFXN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sfxn4 has been classified as Amber List (Moderate Evidence).

6 Aug 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SFXN4.

6 Aug 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SFXN4 were changed from Combined oxidative phosphorylation deficiency 18, MIM#615578 to Combined oxidative phosphorylation deficiency 18 615578

16 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SFXN4 was added gene: SFXN4 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFXN4 were set to 31059822; 24119684 Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, MIM#615578 Review for gene: SFXN4 was set to GREEN gene: SFXN4 was marked as current diagnostic