Anophthalmia or microphthalmia
Gene: SIX6Comment 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expertCreated: 10 May 2016, 11:50 a.m.
Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SIX6 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
SIX6 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services