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Intellectual disability

Gene: ITGB6

Red List (low evidence)

ITGB6 (integrin subunit beta 6)
EnsemblGeneIds (GRCh38): ENSG00000115221
EnsemblGeneIds (GRCh37): ENSG00000115221
OMIM: 147558, Gene2Phenotype
ITGB6 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:26695873 (Ansar et al., 2016) report a novel rare missense variant c.898G>A (p.(Glu300Lys)) in ITGB6 in 3 affected members of a consanguineous Pakistani family with mild-to-moderate intellectual disability (IQ 53–61), adolescent alopecia and dentogingival abnormalities. The homozygous variant co-segregated in affected family members but was heterozygous in the ExAC database with an overall MAF of 3.3×10−5.
Created: 16 Aug 2017, 2:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alopecia with mental retardation (APMR); mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Alopecia with mental retardation (APMR)
  • mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities
OMIM
147558
Clinvar variants
Variants in ITGB6
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.

16 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ITGB6 was created by rfoulger

16 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ITGB6 was added to Intellectual disabilitypanel. Sources: Literature