Intellectual disability - microarray and sequencing
Gene: PAX6
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Intellectual disability is not reported in the phenotypes that have been associated with variants in PAX6 (see OMIM: 607108). It would appear that the aniridia seen in WAGR syndrome (OMIM: 194072) is due PAX6 variants and the intellectual disabillity and other features of this syndrome are caused by other genes within 11p13 the deletion.Created: 10 Jan 2023, 11:18 a.m. | Last Modified: 10 Jan 2023, 11:18 a.m.
Panel Version: 4.32
I don't think this gene should be green on the ID panel. ID seems to be part of the WAGR syndrome which is a contiguous gene deletion syndrome involving this gene and others. Variants in this gene are associated with an eye disorder.Created: 6 Dec 2022, 5:30 p.m. | Last Modified: 6 Dec 2022, 5:30 p.m.
Panel Version: 4.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
KERATITIS HEREDITARY (KERH)
Publications
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;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function; UncertainCreated: 27 Jul 2017, 7:56 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function; 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 TrustCreated: 19 Jul 2017, 1:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Tag Q1_23_demote_red was removed from gene: PAX6. Tag Q1_23_NHS_review was removed from gene: PAX6.
Source Expert Review Red was added to PAX6. Source NHS GMS was added to PAX6. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q1_23_demote_red tag was added to gene: PAX6. Tag Q1_23_NHS_review tag was added to gene: PAX6.
Source Victorian Clinical Genetics Services was added to PAX6.
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.
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
PAX6 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene PAX6 was changed to BIALLELIC, autosomal or pseudoautosomal
PAX6 was added to Intellectual disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PAX6 was changed to BIALLELIC, autosomal or pseudoautosomal
PAX6 was added to Intellectual disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
PAX6 was added to Intellectual disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen