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Bilateral congenital or childhood onset cataracts

Gene: SMG8

Amber List (moderate evidence)

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

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber as although number of unrelated cases reaches threshold for inclusion (3), the phenotype is not fully penetrant and the disorder is better represented by other panels (e.g. ID, microcephaly etc). This may however we revised if further cases arise.
Created: 23 Dec 2020, 5:33 p.m. | Last Modified: 23 Dec 2020, 5:33 p.m.
Panel Version: 2.54
Currently not associated with any phenotype in OMIM or G2P.
- PMID: 31130284 (2019) - One individual with cataract and a homozygous variant in this gene identified as part of a large candidate gene discovery study. Other features include microcephaly, ID, and neck hyperpigmentation. No further details were provided.

- PMID: 33242396 (2020) - Different biallelic variants in the SMG8 gene identified in 4 consanguineous families, of which 2 kindreds had 3 individuals with cataract. Authors reported congenital bilateral cataract in the two sibs, while the third patient had cataract operated at age 12yrs although the age of onset or any further information was not available. Other clinical features include GDD/ID, dysmorphic features, microcephaly, short stature, brain imaging anomalies and congenital heart disease. Some supportive functional data also provided.
Sources: Literature
Created: 23 Dec 2020, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Intellectual disability; Microcephaly; Short stature; Facial dysmorphism; Cataract



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
  • Cataract
Clinvar variants
Variants in SMG8
Panels with this gene

History Filter Activity

23 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: smg8 has been classified as Amber List (Moderate Evidence).

23 Dec 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SMG8 was added gene: SMG8 was added to Cataracts. Sources: Literature Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 31130284; 33242396 Phenotypes for gene: SMG8 were set to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism; Cataract Review for gene: SMG8 was set to AMBER