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  3. TUSC3
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Congenital Disorders of Glycosylation

Gene: TUSC3

Green List (high evidence)
TUSC3 (tumor suppressor candidate 3)
EnsemblGeneIds (GRCh38): ENSG00000104723
EnsemblGeneIds (GRCh37): ENSG00000104723
OMIM: 601385, Gene2Phenotype
TUSC3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, note homozygous deletions in at least two.
Created: 22 Dec 2020, 12:20 a.m. | Last Modified: 22 Dec 2020, 12:20 a.m.
Panel Version: 0.364

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)

Publications

Created: 22 Dec 2020, 12:20 a.m.
Last Modified: 22 Dec 2020, 12:20 a.m.
Panel version: 0.364

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615
  • TUSC3-CDG (Disorders of protein N-glycosylation)
Tags
SV/CNV
OMIM
601385
Clinvar variants
Variants in TUSC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tusc3 has been classified as Green List (High Evidence).

22 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUSC3 were changed from to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)

22 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUSC3 were set to

22 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TUSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TUSC3.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUSC3 was added gene: TUSC3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUSC3 was set to Unknown