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  3. STT3A
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Intellectual disability syndromic and non-syndromic

Gene: STT3A

Green List (high evidence)
STT3A (STT3A, catalytic subunit of the oligosaccharyltransferase complex)
EnsemblGeneIds (GRCh38): ENSG00000134910
EnsemblGeneIds (GRCh37): ENSG00000134910
OMIM: 601134, Gene2Phenotype
STT3A is in 7 panels

3 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Created: 1 Nov 2021, 4:48 a.m. | Last Modified: 1 Nov 2021, 4:48 a.m.
Panel Version: 0.4233

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iw MIM#615596

Publications

Mode of pathogenicity
Other

Created: 1 Nov 2021, 4:48 a.m.
Last Modified: 1 Nov 2021, 4:48 a.m.
Panel version: 0.4233

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment on list classification: Two further recent publications identified, bringing the total number of reported families to three.
Created: 11 Dec 2019, 1:24 a.m. | Last Modified: 11 Dec 2019, 1:24 a.m.
Panel Version: 0.1262

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iw; OMIM #615596

Publications

Created: 11 Dec 2019, 1:24 a.m.
Last Modified: 11 Dec 2019, 1:24 a.m.
Panel version: 0.2262

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 patient with functional studies.
Created: 10 Dec 2019, 11:46 a.m. | Last Modified: 10 Dec 2019, 11:46 a.m.
Panel Version: 0.1180

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type Iw; OMIM #615596

Publications

Created: 10 Dec 2019, 11:46 a.m.
Last Modified: 10 Dec 2019, 11:46 a.m.
Panel version: 0.1180

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Iw, AR, OMIM #615596
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
OMIM
601134
Clinvar variants
Variants in STT3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714

1 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STT3A were set to PMID: 23842455; 30701557; 28424003

1 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw; OMIM #615596 to Congenital disorder of glycosylation, type Iw; OMIM #615596

11 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STT3A were set to PMID: 23842455

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stt3a has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stt3a 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: stt3a has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from STT3A. Source Expert list was added to STT3A. Mode of inheritance for gene STT3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STT3A were changed from to ?Congenital disorder of glycosylation, type Iw; OMIM #615596 Publications for gene STT3A were changed from PMID: 23842455 to PMID: 23842455

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STT3A was added gene: STT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3A was set to Unknown