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Intellectual disability syndromic and non-syndromic

Gene: STT3B

Red List (low evidence)

STT3B (STT3B, catalytic subunit of the oligosaccharyltransferase complex)
EnsemblGeneIds (GRCh38): ENSG00000163527
EnsemblGeneIds (GRCh37): ENSG00000163527
OMIM: 608605, Gene2Phenotype
STT3B is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

1 patient with functional studies.
Created: 10 Dec 2019, 11:43 a.m. | Last Modified: 10 Dec 2019, 11:43 a.m.
Panel Version: 0.1178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type Ix; OMIM #615597

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Congenital disorder of glycosylation, type Ix
  • OMIM #615597
OMIM
608605
Clinvar variants
Variants in STT3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stt3b 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: stt3b 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 STT3B. Source Expert list was added to STT3B. Mode of inheritance for gene STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STT3B were changed from to ?Congenital disorder of glycosylation, type Ix; OMIM #615597 Publications for gene STT3B 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: STT3B was added gene: STT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3B was set to Unknown