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Intellectual disability

Gene: SMG8

Red List (low evidence)

SMG8 (SMG8, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000167447
EnsemblGeneIds (GRCh37): ENSG00000167447
OMIM: 613175, Gene2Phenotype
SMG8 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Rating Red as gene only distinguished due to multiple hits in same candidate gene; however, patients display discordant phenotype and ID only reported in one patient.
Created: 27 Aug 2020, 2:56 p.m. | Last Modified: 27 Aug 2020, 2:56 p.m.
Panel Version: 3.271
PMID: 31130284 (2019) - Two individuals with 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.
Created: 27 Aug 2020, 2:51 p.m. | Last Modified: 27 Aug 2020, 2:51 p.m.
Panel Version: 3.270

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families, no functional data.
Sources: Expert list
Created: 27 Feb 2020, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: smg8 has been classified as Red List (Low Evidence).

27 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SMG8 was added gene: SMG8 was added to Intellectual disability. Sources: Expert list 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