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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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Individuals have nonsyndromic moderately to severely impaired intellectual development. Reports also detail some individuals with poor overall growth with short stature and small head circumference. Some mild dysmorphic features also reported.
More than 5 unrelated families reported.
Large deletions are reported in literature - PMID: 28397838, 18452889, 23825019. ?Technical challenge. Include given other variant types are present.
Created: 12 Dec 2024, 2:44 a.m. | Last Modified: 12 Dec 2024, 2:44 a.m.
Panel Version: 1.716

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 7 MIM#611093

Publications

Created: 12 Dec 2024, 2:44 a.m.
Last Modified: 12 Dec 2024, 2:44 a.m.
Panel version: 1.716

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 7 MIM#611093
OMIM
601385
Clinvar variants
Variants in TUSC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, 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).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUSC3 were changed from Mental retardation, autosomal recessive 7, 611093 (3) to Intellectual developmental disorder, autosomal recessive 7 MIM#611093

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUSC3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUSC3 was added gene: TUSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)