This database has been closed to new submissions.

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

About this overview [Show]

Patient data (#0000508)
Patient ID n/a
Disease Atypical Gillespie Syndrome
Reference/Submitter [17148041], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique DHPLC
Remarks Gillespie syndrome is characterised by iris hypoplasia ('partial aniridia'), cerebellar ataxia and mental retardation. This patient does not have ataxia and may therefore have a variant PAX6 phenotype. It is unclear if the mild neurological anomalies are associated with the PAX6 mutation or not
# Reported 1
Population -
Gender Male
Sequence Inheritance Sporadic
Phenotype Inheritance Sporadic
Second PCR -
CIS -
Conserved residue Yes
Related Phenotype 'Atypical Gillespie syndrome': ptosis, iris anomalies, foveal hypoplasia, retinal vascular tortuosity
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 02
Location Intron
Legacy DNA ID IVS2+2T>A
DNA change c.-129+2T>A
RNA change r.spl?
Protein change -
RNA information Predicted abolition of intron 2 splice donor. Outcome unknown
Protein information Effect on protein unknown
DB-ID PAX6_00400
Base number -
5' Sequence Context TAAAG/G
Original Sequence T
Variant Sequence A
3' Sequence Context GAGTCC
Type -
Domain -
Detection Method DHPLC
RE Site -
Frequency -
Remarks -

1 entry 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
?/? Unknown 02 Intron IVS2+2T>A c.-129+2T>A r.spl? - Predicted abolition of intron 2 splice donor. Outcome unknown Effect on protein unknown PAX6_00400 - TAAAG/G T A GAGTCC - - DHPLC - - -