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  2. Likely inborn error of metabolism
  3. TUSC3
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Likely inborn error of metabolism

Gene: TUSC3

Green List (high evidence)
TUSC3 (tumor suppressor candidate 3)
EnsemblGeneIds (GRCh38): ENSG00000104723
EnsemblGeneIds (GRCh37): ENSG00000104723
OMIM: 601385, Gene2Phenotype
TUSC3 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
OMIM
601385
Clinvar variants
Variants in TUSC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TUSC3 were set to 27604308

31 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TUSC3 were changed from TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TUSC3. Source London North GLH was added to TUSC3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes TUSC3-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 7 for gene: TUSC3 Publications for gene TUSC3 were changed from 18452889; 18455129; 27148795; 26864433 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TUSC3 was added gene: TUSC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUSC3 were set to 18452889; 18455129; 27148795; 26864433 Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7