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Structural eye disease

Gene: PAX3

Red List (low evidence)

PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 15 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

FC: the main eye anomalies are changes in pigmentation, rather than structural changes - DB: checked many papers on PAX3/Waardenburg but did not find any cases with structural eye anomalies
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; 148820; 193500

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC: the main eye anomalies are changes in pigmentation, rather than structural changes - DB: checked many papers on PAX3/Waardenburg but did not find any cases with structural eye anomalies
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 3; Waardenburg syndrome, type 1; 148820; 193500

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PAX3 was added gene: PAX3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820