Anophthalmia or microphthalmia
Gene: SIX6EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 6 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" to "BIALLELIC, autosomal or pseudoautosomal".
Review copied from Structural eye disease panel:
"Aldamesh (2013) reported one family; Yariz (2015) one family; Patel (2018) one family), all three variants homozygous. Gallardo reported a heterozygous variant in a patient with bilateral microphthalmia, inherited from the unaffected father. This variant has now been reclassified on OMIM as VUS. Mode of inheritance should be changed.
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust), 19 Jun 2019"Created: 18 Mar 2022, 2 p.m. | Last Modified: 18 Mar 2022, 2 p.m.
Panel Version: 1.45
David FitzPatrick (University of Edinburgh)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expertCreated: 10 May 2016, 11:50 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
- OMIM
- 606326
- Clinvar variants
- Variants in SIX6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SIX6 were changed from Anophthalmia/Microphthalmia; Microphthalmia with cataract 2, 212550 to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()SIX6 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SIX6 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services