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Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Marked gene: CSGALNACT1 as ready
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence)
Skeletal dysplasia v0.255 CSGALNACT1 Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.254 CSGALNACT1 Zornitza Stark gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Four families reported.
Sources: Expert Review