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Intellectual disability

Gene: ORC4

Red List (low evidence)

ORC4 (origin recognition complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000115947
EnsemblGeneIds (GRCh37): ENSG00000115947
OMIM: 603056, Gene2Phenotype
ORC4 is in 9 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Created: 12 Sep 2018, 1:32 p.m.
Past onto clinical team for further review and consideration of downgrading gene. Although this is confirmed gene in Gene2Phenotype for Meier-Gorlin syndrome, there is no evidence in the literature that ID is a predominant phenotype for variants of ORC4 that result in Meier-Gorlin syndrome 2, only some cases of delayed motor development and/or speech development
Created: 30 Jul 2018, 12:27 p.m.
de Munnik SA et al., (2015) PMID: 26381604 noted that Intellect is normal in the majority of patients with MGS (30/31; 97 %), although delayed motor development and/or speech development without intellectual disability (ID) were present in 19 % (6/32) and 16 % (5/32) of patients, respectively. A mild ID was present in one patient (3 %).
Created: 30 Jul 2018, 12:26 p.m.
Comment on publications: added publications
Created: 30 Jul 2018, 12:23 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Not convinced Meier-Gorlin syndrome is associated with ID.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0322-x
Created: 19 Jun 2018, 9:02 p.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MEIER-GORLIN SYNDROME 2

Publications

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:53 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene
Created: 7 Feb 2016, 11:22 p.m.

Details

History Filter Activity

12 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: orc4 has been classified as Red List (Low Evidence).

30 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, 613800

30 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ORC4 were set to 11477602; 7710253; 26381604

12 Mar 2018, Gel status: 3

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.

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

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)

ORC4 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ORC4 was added to Intellectual disabilitypanel. Sources: Expert Review Amber