Structural eye disease
Gene: SIX6
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.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change
Phenotypes
Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). 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.Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change
Phenotypes
Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: This is a Green gene on the Anophthalmia or microphthalmia gene panel (Version 1.15, code 34) with a mode of inheritance of monoallelic for Anophthalmia/Microphthalmia/ Microphthalmia with cataract. It is Amber on the Ocular coloboma gene panel (Version 1.20, code 294), with the mode of inheritance BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Optic disc anomalies with retinal and/or macular dystrophy, 212550. It is therefore monoallelic here, to represent the mode of inheritance for the highest rating.Created: 3 Jan 2019, 2:08 p.m.
Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to SIX6. Mode of inheritance for gene SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change Mode of pathogenicity for gene SIX6 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia with cataract 2, 212550; Anophthalmia/Microphthalmia; Optic disc anomalies with retinal and/or macular dystrophy, 212550 for gene: SIX6 Publications for gene SIX6 were changed from 23167593, 24702266 to 15266624; 29450879; 23167593; 24702266
Mode of inheritance for gene: SIX6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: SIX6 was added gene: SIX6 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SIX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIX6 were set to 23167593, 24702266 Phenotypes for gene: SIX6 were set to Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia