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Intellectual disability

Gene: SMG8

Amber List (moderate evidence)

SMG8 (SMG8, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000167447
EnsemblGeneIds (GRCh37): ENSG00000167447
OMIM: 613175, Gene2Phenotype
SMG8 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Additional cases reported in recent publication (PMID: 33242396) extend the total to at least 5 unrelated families with GDD/ID and different homozygous variants in the SMG8 gene. Also some supporting functional data provided.

Upgraded from Red to Amber, but there is sufficient evidence to promote to Green at the next GMS panel update (added 'for-review' tag)
Created: 23 Dec 2020, 4:52 p.m. | Last Modified: 23 Dec 2020, 4:52 p.m.
Panel Version: 3.683
PMID: 33242396 (2020) - 9 affected individuals from 4 consanguineous families with different biallelic variants in the SMG8 gene. Clinical features include GDD (8/8), dysmorphic features (9/9) microcephaly (6/9), short stature (4/9), brain imaging anomalies (4/5), congenital heart disease (3/9) and cataract (3/8). Only two sibs from Family 2 had a formal ID diagnosis, but this can be inferred from the clinical reports of the other cases demonstrating severe language delays, difficulties to follow simple instructions or perform daily activities.
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Several features described here overlap with those in the previously reported cases from PMID: 31130284 (e.g. microcephaly, ID, cataract, VSD)
Created: 23 Dec 2020, 4:44 p.m. | Last Modified: 23 Dec 2020, 4:44 p.m.
Panel Version: 3.681
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)

Green List (high evidence)

Four more families reported in PMID 33242396. Some functional data also provided.
Created: 9 Dec 2020, 7:57 a.m. | Last Modified: 9 Dec 2020, 7:57 a.m.
Panel Version: 3.644
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 Amber
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
Tags
for-review
OMIM
613175
Clinvar variants
Variants in SMG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: SMG8.

23 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMG8 were changed from Intellectual disability; Microcephaly; Short stature; Facial dysmorphism Edit to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism

23 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMG8 were changed from Intellectual disability to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism Edit

23 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: smg8 has been classified as Amber List (Moderate Evidence).

23 Dec 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SMG8 were set to 31130284

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