Familial Neural Tube DefectsGene: B9D1
Phenotypes for gene: B9D1 were changed from Meckel Syndrome to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
This gene has been classified as Red List (Low Evidence).
B9D1 was added to Familial Neural Tube Defectspanel. Source: UKGTN
B9D1 was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
B9D1 was created by oniblock
B9D1 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen