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  3. PAX6
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BRIDGE_SPEED_NEURO_20170705

Gene: PAX6

Green List (high evidence)
PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 22 panels

2 reviews

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;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function; Uncertain
Created: 28 Jul 2017, 10:31 a.m.

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

Publications

Created: 2 Aug 2017, 5:43 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:14 p.m.
Created: 31 Jul 2017, 1:14 p.m.

Panel version: 0.119

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Aniridia, 106210
  • Peters anomaly, 604229
  • Cataract with late-onset corneal dystrophy, 106210
  • Keratitis, 148190
  • Foveal hypoplasia 1, 136520
  • ?Morning glory disc anomaly, 120430
  • Optic nerve hypoplasia, 165550
  • Coloboma, ocular, 120200
  • Coloboma of optic nerve, 120430
  • Gillespie syndrome, 206700
OMIM
607108
Clinvar variants
Variants in PAX6
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PAX6 were set to Aniridia, 106210; Peters anomaly, 604229; Cataract with late-onset corneal dystrophy, 106210; Keratitis, 148190; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200; Coloboma of optic nerve, 120430; Gillespie syndrome, 206700

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PAX6 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PAX6 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green