Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Ivone Leong commented on gene: CTDP1: Submitted on behalf of NHS GMS "Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype."
Ivone Leong commented on gene: CTDP1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. Retain as amber - c.863 + 389C > T is still the only variant associated with the relevant disorder and unclear if coding sequence variants would cause the same phenotype.
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the new review, this gene has been promoted to Amber and tagged with "for-review" for the next round of GMS panel reviews so the new rating can be considered.
Ivone Leong Phenotypes for gene: CTDP1 were changed from Congenital cataracts, facial dysmorphism, and neuropathy, 604168 to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402
Zornitza Stark changed review comment from: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK.; to: Although it is a founder variant, the number of families reported is large and the population is not geographically restricted, i.e. is present in the UK. The gene is Green on the neuropathy and ID panels.