Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: KIRREL3

Amber List (moderate evidence)

KIRREL3 (kirre like nephrin family adhesion molecule 3)
EnsemblGeneIds (GRCh38): ENSG00000149571
EnsemblGeneIds (GRCh37): ENSG00000149571
OMIM: 607761, Gene2Phenotype
KIRREL3 is in 3 panels

6 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Variants associated with ID have now been re-classified based on population frequency.
Created: 8 Feb 2020, 10:06 a.m. | Last Modified: 8 Feb 2020, 10:06 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 9:34 p.m.

Olivia Niblock (Genomics England Curator)

I don't know

Amber - There are two human cases in the literature linking deletions of or variants in this gene to Intellectual disability. One paper describes a small interstitial deletion of 2.899Mb which encompasses this gene as a candidate. The patient presented with developmental delay and autistic features (PMID: 22965935). The other paper desricbes a patient with profound intellectual disability with a truncation of two genes - KIRREL3 and CDH15 - as a result of a translocation (19012874). Not able to distinguish whether or not this may be a digenic affect or solely due to transloaction of KIRREL3.
Created: 13 Dec 2017, 10:16 p.m.

Mode of inheritance
Unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 (MRD4)

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_2_4_2017;in_gilissen_2014_known . Main mutation mechanism : Uncertain
Created: 27 Jul 2017, 7:07 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; find_uk10k; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; Uncertain. 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, 12:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 4, 612581
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 (MRD4)
OMIM
607761
Clinvar variants
Variants in KIRREL3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kirrel3 has been classified as Amber List (Moderate Evidence).

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KIRREL3.

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.

5 Jan 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to KIRREL3. Panel: Intellectual disability Model of inheritance for gene KIRREL3 was set to Unknown Publications for gene KIRREL3 was set to ['22965935', ' 19012874']

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: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

KIRREL3 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIRREL3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen