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  2. Structural eye disease
  3. SMG9
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Structural eye disease

Gene: SMG9

Amber List (moderate evidence)
SMG9 (SMG9, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000105771
EnsemblGeneIds (GRCh37): ENSG00000105771
OMIM: 613176, Gene2Phenotype
SMG9 is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Shaheen 2016: two consanguineous families with homozygous loss-of-function mutations in SMG9; eye phenotype: family 1 with anophthalmia, family 2 only with hypertelorism. Knocking out Smg9 in mice via CRISPR/Cas9 recapitulating the major features of the multiple congenital anomaly human syndrome (ano-/microphthalmia).
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Heart and Brain Malformation Syndrome: HBMS

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • London North GLH
Phenotypes
  • Heart and Brain Malformation Syndrome, HBMS, 616920
OMIM
613176
Clinvar variants
Variants in SMG9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SMG9 were set to 27018474; 33242396

19 Oct 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SMG9 were set to 27018474

1 Oct 2019, Gel status: 2

Added New Source, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SMG9. Publications for gene SMG9 were changed from to 27018474

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SMG9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SMG9 was added gene: SMG9 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMG9 were set to Heart and Brain Malformation Syndrome, HBMS, 616920