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Severe microcephaly

Gene: SMG8

Green List (high evidence)

SMG8 (SMG8, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000167447
EnsemblGeneIds (GRCh37): ENSG00000167447
OMIM: 613175, Gene2Phenotype
SMG8 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282

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 Green
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: SMG8.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

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