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  3. SMG8
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Intellectual disability syndromic and non-syndromic

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

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

4x homozygous families reported (3 PTCs, 1 missense) all predicted to be likely pathogenic.
The observed phenotype greatly resembled that linked to SMG9 and comprised severe global developmental delay, microcephaly, facial dysmorphism, and variable congenital heart and eye malformations.

"RNA-seq analysis revealed a general increase in mRNA expression levels with significant overrepresentation of core NMD substrates. We also identified increased phosphorylation of UPF1, a key SMG1-dependent step in NMD, which most likely represents the loss of SMG8–mediated inhibition of SMG1 kinase activity. Our data show that SMG8 and SMG9
deficiency results in overlapping developmental disorders that most likely converge mechanistically on impaired NMD."
Created: 7 Dec 2020, 4:55 a.m. | Last Modified: 7 Dec 2020, 4:55 a.m.
Panel Version: 0.3248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuorodevelopmental disorder

Publications

Created: 7 Dec 2020, 4:55 a.m.
Last Modified: 7 Dec 2020, 4:55 a.m.
Panel version: 0.3248

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, no functional data.
Sources: Literature
Created: 21 Jan 2020, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Created: 21 Jan 2020, 2:48 a.m.

Panel version: 0.1628

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alzahrani-Kuwahara syndrome, MIM# 619268
  • Intellectual disability
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM# 619268; Intellectual disability

7 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMG8 were set to 31130284

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smg8 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMG8 was added gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 31130284 Phenotypes for gene: SMG8 were set to Intellectual disability Review for gene: SMG8 was set to AMBER