Intellectual disability update Jan 2018

Gene: HAUS7

Red List (low evidence)

HAUS7 (HAUS augmin like complex subunit 7)
EnsemblGeneIds (GRCh38): ENSG00000213397
EnsemblGeneIds (GRCh37): ENSG00000213397
OMIM: 300540, Gene2Phenotype
HAUS7 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.

This gene is also not currently a DD gene in Gene2Phenotype.
Created: 1 Mar 2018, 2:10 p.m.

Details

Sources
  • Expert Review Red
OMIM
300540
Clinvar variants
Variants in HAUS7
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HAUS7 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

HAUS7 was created by Ellen McDonagh