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Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Marked gene: NR6A1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Classified gene: NR6A1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.43 NR6A1 Bryony Thompson Gene: nr6a1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.42 NR6A1 Bryony Thompson gene: NR6A1 was added
gene: NR6A1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR6A1 were set to 39606382
Phenotypes for gene: NR6A1 were set to Craniofacial microsomia MONDO:0015397
Review for gene: NR6A1 was set to GREEN
Added comment: 6 unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) with incomplete penetrance and variable expressivity. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities characterised the phenotype of the families. Also, supporting zebrafish model. Loss of function is the expected mechanism of disease.
Sources: Literature