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Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.40 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature
deep intronic tags were added to gene: NHEJ1.
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHEJ1 were set to 37580330
Phenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13 620968
Review for gene: NHEJ1 was set to RED
Added comment: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1.
Sources: Literature