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).
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
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
Rebecca Foulger Mode of inheritance for gene: C21orf2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal