Skeletal dysplasiaGene: SDCCAG8
Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore keeping this gene red on the skeletal dysplasia panel.
Created: 12 Dec 2019, 8:37 p.m. | Last Modified: 12 Dec 2019, 8:37 p.m.
Panel Version: 1.331
Gene: sdccag8 has been classified as Red List (Low Evidence).
Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Bardet-Biedl syndrome 16, 615993
Phenotypes for gene: SDCCAG8 were changed from to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 9th August 2016
SDCCAG8 was created by sleigh
SDCCAG8 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory