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  2. Intellectual_disability
  3. TEPSIN
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Intellectual_disability

Gene: TEPSIN

Red List (low evidence)
TEPSIN (TEPSIN, adaptor related protein complex 4 accessory protein)
EnsemblGeneIds (GRCh38): ENSG00000167302
EnsemblGeneIds (GRCh37): ENSG00000167302
TEPSIN is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 4:48 p.m.
Created: 9 Dec 2016, 4:48 p.m.

Panel version: 0.1133

Details

Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Clinvar variants
Variants in TEPSIN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

ENTHD2 was changed to TEPSIN

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from ENTHD2. Panel: Intellectual_disability

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ENTHD2 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)