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  2. Intellectual_disability
  3. TKTL1
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Intellectual_disability

Gene: TKTL1

Red List (low evidence)
TKTL1 (transketolase like 1)
EnsemblGeneIds (GRCh38): ENSG00000007350
EnsemblGeneIds (GRCh37): ENSG00000007350
OMIM: 300044, Gene2Phenotype
TKTL1 is in 1 panel

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300044
Clinvar variants
Variants in TKTL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TKTL1 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)