Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: 3 Meckel-Gruber patients with 3 different TXNDC15 variants reported in PMID:27894351 (2 consanguineous Saudi and Pakistani) plus functional data (Patient fibroblasts had aberrant ciliogenesis). Helen Brittain confirms that sufficient variants and appropriate phenotype for inclusion on panel.
Rebecca Foulger Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal