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Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Classified gene: C21orf2 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Two Green expert reviews, plus recent literature evidence for biallelic C21orf2 variants involved in Jeune syndrome (PMID:26167768).
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Gene: c21orf2 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.55 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome to Jeune asphyxiating thoracic dystrophy (JATD); Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.54 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Spondylometaphyseal dysplasia, axial, MIM#602271 to Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and DD-G2P.
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Mode of inheritance for gene: C21orf2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768; 23105016
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768
Rare multisystem ciliopathy disorders v1.51 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899, 26974433, 26167768
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger commented on gene: C21orf2
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
Rare multisystem ciliopathy disorders v1.48 C21orf2 Andrea Nemeth reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 26167768, 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia (axial SMD), Jeune Syndrome, Retinal Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders C21orf2 Zornitza Stark Added gene to panel