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  3. PAX6
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Intellectual_disability

Gene: PAX6

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Known gene (Grozeva et al, 2015)
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
  • Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700
  • Intellectual disability
OMIM
607108
Clinvar variants
Variants in PAX6
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX6 was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PAX6 was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Intellectual_disabilitypanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX6 was added to Intellectual_disabilitypanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen