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The date of last curation was 07 June 2017 and the 'last update' on 04 August 2018 was a partial and uncurated update.

LOVD - Variant listings for PAX6

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Patient data (#0001059)
Patient ID Case 1
Disease Anophthalmia, brain malformations
Reference/Submitter [20054790], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Very detailed anatomical and histological analysis of compound heterozygous brain phenotype, revealing numerous macroscopic and microscopic developmental defects. A male sib (Case 2) was similarly affected.
# Reported 1
Population -
Gender female
Sequence Inheritance Familial
Phenotype Inheritance Familial
Second PCR -
CIS -
Conserved residue -
Related Phenotype Gross brain malformations; anophthalmia, rudimentary nose. Foetus inherited PAX6 mutations from mother and father. Pregnancy terminated at 24 weeks after severe malformations were detected by ultrasound.
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
Location Exon
Legacy DNA ID c.479_490del12
DNA change c.117_128del12   (View in UCSC Genome Browser)
RNA change -
Protein change p.(49_43delCDIS)
RNA information In-frame deletion of 12 bases
Protein information Predicted deletion of 4 amino acids from second alpha helix of N-terminal sub-domain
DB-ID PAX6_00588
Base number 117
5' Sequence Context CCGGCC
Original Sequence GTGCGACATTTC
Variant Sequence -
3' Sequence Context CCGAAT
Type Deletion
Domain PD
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks Affected foetus also inherited a maternal PAX6 mutation

2 entries in PAX6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
Remarks Descending
Ascending
+/+ Maternal (confirmed) 05 Exon c.474delC c.112delC - p.(Arg38Glyfs*16) PTC predicted - NMD likely Protein synthesis unlikely PAX6_00587 112 GGGGCC C - GGCCGT Deletion PD Direct Sequencing - - Affected foetus also inherited a paternal PAX6 mutation
+/+ Paternal (confirmed) 05 Exon c.479_490del12 c.117_128del12 - p.(49_43delCDIS) In-frame deletion of 12 bases Predicted deletion of 4 amino acids from second alpha helix of N-terminal sub-domain PAX6_00588 117 CCGGCC GTGCGACATTTC - CCGAAT Deletion PD Direct Sequencing - - Affected foetus also inherited a maternal PAX6 mutation