| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.608 | ARCN1 | Zornitza Stark Marked gene: ARCN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.608 | ARCN1 | Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.608 | ARCN1 | Zornitza Stark Classified gene: ARCN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.608 | ARCN1 | Zornitza Stark Gene: arcn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.607 | ARCN1 |
Zornitza Stark gene: ARCN1 was added gene: ARCN1 was added to Cataract. Sources: Literature Mode of inheritance for gene: ARCN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARCN1 were set to 35300924 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Review for gene: ARCN1 was set to AMBER Added comment: PMID 35300924 reports 4 individuals from 2 unrelated families with biallelic loss-of-function ARCN1 variants presenting with cataract (onset infancy to early adolescence) as part of ARCN1‑related syndrome. Sources: Literature |
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