| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital ophthalmoplegia v0.6 | KIF21A | Zornitza Stark Marked gene: KIF21A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.6 | KIF21A | Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.6 | KIF21A | Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.5 | KIF21A | Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, MIM# 135700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.4 | KIF21A | Zornitza Stark Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | KIF21A | Shannon LeBlanc reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14595441, 28930843, 27513105, 26190014, 24656932; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, 135700, Fibrosis of extraocular muscles, congenital, 3B, 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320 Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1 135700; Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 3B 135700 |
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