Structural eye disease
Gene: PAX3EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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 anomaliesCreated: 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)
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 anomaliesCreated: 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
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Waardenburg syndrome, type 1, 193500
- Waardenburg syndrome, type 3, 148820
- OMIM
- 606597
- Clinvar variants
- Variants in PAX3
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Sarcoma susceptibility
- DDG2P
- Sarcoma cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Pigmentary skin disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Familial rhabdomyosarcoma
- Intellectual disability
History Filter Activity
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