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Intellectual disability syndromic and non-syndromic

Gene: SMG9

Green List (high evidence)

SMG9 (SMG9, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000105771
EnsemblGeneIds (GRCh37): ENSG00000105771
OMIM: 613176, Gene2Phenotype
SMG9 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.
Created: 13 Aug 2022, 7:32 a.m. | Last Modified: 13 Aug 2022, 7:32 a.m.
Panel Version: 0.4874
Three unrelated families reported, severe congenital malformation syndrome, ID is part of the phenotype in survivors.
Sources: Expert list
Created: 27 Feb 2020, 3:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920
  • Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995
OMIM
613176
Clinvar variants
Variants in SMG9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995

13 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMG9 were set to 27018474; 31390136

27 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smg9 has been classified as Green List (High Evidence).

27 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smg9 has been classified as Green List (High Evidence).

27 Feb 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: SMG9 was added gene: SMG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG9 were set to 27018474; 31390136 Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, MIM# 616920 Review for gene: SMG9 was set to GREEN