Structural eye disease
Gene: SIX3
pineda-alvarez: one case with dysplastic optic nerve; Wallis one case with microphthalmia. Mercier: large HPE study, two cases with SIX3 variant and coloboma - no further details. Doesn't seem commonly reported but SIX3 seems to give rise to very severe phenotype, most reports are on fetusses or children that died in infancy.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 2; ; 157170
Publications
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). pineda-alvarez: one case with dysplastic optic nerve; Wallis one case with microphthalmia. Mercier: large HPE study, two cases with SIX3 variant and coloboma - no further details. Doesn't seem commonly reported but SIX3 seems to give rise to very severe phenotype, most reports are on fetusses or children that died in infancy.Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly 2, 157170
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to SIX3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 157170; Holoprosencephaly 2, 157170 to Holoprosencephaly 2 157170
Source NHS GMS was added to SIX3. Mode of inheritance for gene SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Holoprosencephaly 2, 157170 for gene: SIX3 Publications for gene SIX3 were changed from 21976454 to 21976454; 21940735; 10369266
gene: SIX3 was added gene: SIX3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: SIX3 were set to 21976454 Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 157170