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Intellectual disability

Gene: QRICH1

Green List (high evidence)

QRICH1 (glutamine rich 1)
EnsemblGeneIds (GRCh38): ENSG00000198218
EnsemblGeneIds (GRCh37): ENSG00000198218
OMIM: 617387, Gene2Phenotype
QRICH1 is in 5 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated patients with de novo variants in this gene and intellectual disability among other features, meets inclusion criteria.
Created: 20 Jun 2018, 3:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ververi-Brady syndrome (617982)

Publications

Variants in this GENE are reported as part of current diagnostic practice

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:12 p.m.

Mode of inheritance
Unknown

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 26 Jul 2018, 11:53 a.m.
Comment on mode of inheritance: Added MOI from external expert review and publication
Created: 26 Jul 2018, 11:53 a.m.
Comment on publications: Ververi et al (2018) PMID: 28692176 reported 3 unrelated patients with Ververi-Brady syndrome and identified de novo heterozygous nonsense or frameshift mutations in the QRICH1
Created: 26 Jul 2018, 11:51 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 26 Jul 2018, 11:48 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:27 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Ververi-Brady syndrome, 617982
  • Intellectual disability
OMIM
617387
Clinvar variants
Variants in QRICH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to QRICH1.

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: qrich1 has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: QRICH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: QRICH1 were set to Ververi-Brady syndrome, 617982; Intellectual disability

26 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: QRICH1 were set to 28692176; 25529582

26 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: QRICH1 were set to 28692176; 25529582

12 Mar 2018, Gel status: 2

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.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

QRICH1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

QRICH1 was created by BRIDGE