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Intellectual disability

Gene: THUMPD1

Red List (low evidence)

THUMPD1 (THUMP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000066654
EnsemblGeneIds (GRCh37): ENSG00000066654
OMIM: 616662, Gene2Phenotype
THUMPD1 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

No clear ID link.
Created: 31 Oct 2017, 9:24 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
OMIM
616662
Clinvar variants
Variants in THUMPD1
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

THUMPD1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THUMPD1 was added to Intellectual disabilitypanel. Sources: Expert Review Red