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Intellectual disability

Gene: INTS6L

Red List (low evidence)

INTS6L (integrator complex subunit 6 like)
EnsemblGeneIds (GRCh38): ENSG00000165359
EnsemblGeneIds (GRCh37): ENSG00000165359
INTS6L is in 1 panel

4 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene symbol is now INTS6L. This is a candidate gene for ID in PMID: 26350204. In PMID: 28720891 a variant is reported as heterozygous in a female with autism, but the unaffected father was hemizygous for this variant.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is INTS6L
Created: 19 Jul 2017, 4:31 p.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

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
  • Expert Review Red
Clinvar variants
Variants in INTS6L
Penetrance
Complete
Publications
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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene INTS6L was set to ['28720891', '26350204']

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

DDX26B was changed to INTS6L

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from DDX26B. Panel: Intellectual disability

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

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX26B was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DDX26B was created by ellenmcdonagh