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Intellectual disability syndromic and non-syndromic

Gene: SMG6

Red List (low evidence)

SMG6 (SMG6, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000070366
EnsemblGeneIds (GRCh37): ENSG00000070366
OMIM: 610963, Gene2Phenotype
SMG6 is in 1 panel

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no human phenotype reported.
Created: 10 Dec 2019, 10:38 p.m. | Last Modified: 10 Dec 2019, 10:38 p.m.
Panel Version: 0.1228

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
OMIM
610963
Clinvar variants
Variants in SMG6
Penetrance
None
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smg6 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: smg6 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMG6 was added gene: SMG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMG6 was set to Unknown