Structural eye disease
Gene: SMG8

SMG8 (SMG8, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000167447
EnsemblGeneIds (GRCh37): ENSG00000167447
OMIM: 613175, Gene2Phenotype
SMG8 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:56 p.m. | Last Modified: 2 May 2024, 1:56 p.m.

Panel Version: 3.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 1:56 p.m.
Last Modified: 2 May 2024, 1:56 p.m.
Panel version: 3.79

Sarah Leigh (Genomics England Curator)

SMG8 variants are associated with Alzahrani-Kuwahara syndrome (OMIM:619268) and as strong Gen2Phen gene for the same condition. So far four validated variants have been reported (PMID: 33242396& 34761517) in unrelated cases of OMIM:619268. An ocular phenotype was observed in three of these cases (strabismus, cataract & microphthalmia).
Created: 19 Oct 2023, 3:28 p.m. | Last Modified: 19 Oct 2023, 3:28 p.m.

Panel Version: 3.37

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 19 Oct 2023, 3:18 p.m. | Last Modified: 19 Oct 2023, 3:18 p.m.

Panel Version: 3.37

Created: 19 Oct 2023, 3:18 p.m.
Last Modified: 19 Oct 2023, 3:18 p.m.
Panel version: 3.37

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 34761517 describe a patient with Alzahrani-Kuwahara syndrome and unilateral microphthalmia.
There is some evidence that SMG9 may cause microphthalmia (PMID: 27018474), and these two genes work together
Sources: Literature
Created: 18 Sep 2023, 1:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alzahrani-Kuwahara syndrome

Publications

34761517

Created: 18 Sep 2023, 1:01 p.m.

Panel version: 3.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Alzahrani-Kuwahara syndrome, OMIM:619268

OMIM

613175

Clinvar variants

Variants in SMG8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: SMG8. Tag Q4_23_NHS_review was removed from gene: SMG8.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SMG8. Source Expert Review Green was added to SMG8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Oct 2023, Gel status: 2