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Severe microcephaly

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 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Rating Amber but can be promoted to Green at the next GMS panel update (added 'for-review' tag).

At least 5 unrelated families with microcephaly and different homozygous variants in the SMG8 gene. OFC recorded for only 3 families, but each includes at least one microcephalic individual with severity relevant to this panel (more than -3 SD)
Created: 23 Dec 2020, 5:13 p.m. | Last Modified: 23 Dec 2020, 5:13 p.m.
Panel Version: 2.56
Currently not associated with any phenotype in OMIM or G2P.
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- PMID: 31130284 (2019) - Two individuals with distinct homozygous variants in this gene identified as part of a large candidate gene discovery study. Phenotype in one patient included microcephaly, ID, cataract, and neck hyperpigmentation; while the other presented short stature, microcephaly, fine motor delay, ventricular septal defect, failure to thrive, and facial dysmorphism.

- PMID: 33242396 (2020) - 9 affected individuals from 4 consanguineous families with different biallelic variants in the SMG8 gene. Clinical features include GDD/ID (8/8), dysmorphic features (9/9) microcephaly (6/9), short stature (4/9), brain imaging anomalies (4/5), congenital heart disease (3/9) and cataract (3/8). Some supportive functional data also provided. Microcephaly was recorded in 3/4 families, ranging in severity from -2.5 SD to -4.1 SD.
Sources: Literature
Created: 23 Dec 2020, 5:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Microcephaly; Short stature; Facial dysmorphism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
Tags
for-review
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
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, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SMG8 was added gene: SMG8 was added to Severe microcephaly. Sources: Literature for-review tags were added to gene: SMG8. 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 Review for gene: SMG8 was set to GREEN