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Intellectual disability

Gene: SMG8

No list

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

1 review

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
Phenotypes
  • Intellectual disability
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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